PubMed:10842298 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":164},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":165,"end":362},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":363,"end":431},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":432,"end":504},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":505,"end":728},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":729,"end":889},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":890,"end":979},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":980,"end":1113},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1114,"end":1142},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1143,"end":1294},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":164},"obj":"Sentence"},{"id":"T2","span":{"begin":165,"end":362},"obj":"Sentence"},{"id":"T3","span":{"begin":363,"end":431},"obj":"Sentence"},{"id":"T4","span":{"begin":432,"end":504},"obj":"Sentence"},{"id":"T5","span":{"begin":505,"end":728},"obj":"Sentence"},{"id":"T6","span":{"begin":729,"end":889},"obj":"Sentence"},{"id":"T7","span":{"begin":890,"end":979},"obj":"Sentence"},{"id":"T8","span":{"begin":980,"end":1113},"obj":"Sentence"},{"id":"T9","span":{"begin":1114,"end":1142},"obj":"Sentence"},{"id":"T10","span":{"begin":1143,"end":1294},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":179,"end":191},"obj":"HP_0000252"},{"id":"T2","span":{"begin":205,"end":232},"obj":"HP_0008897"},{"id":"T3","span":{"begin":215,"end":232},"obj":"HP_0001510"},{"id":"T4","span":{"begin":238,"end":256},"obj":"HP_0001249"},{"id":"T5","span":{"begin":363,"end":372},"obj":"HP_0001252"},{"id":"T6","span":{"begin":374,"end":397},"obj":"HP_0001135"},{"id":"T7","span":{"begin":403,"end":409},"obj":"HP_0000545"},{"id":"T8","span":{"begin":529,"end":547},"obj":"HP_0001999"},{"id":"T9","span":{"begin":574,"end":592},"obj":"HP_0001249"},{"id":"T10","span":{"begin":598,"end":611},"obj":"HP_0004322"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":179,"end":191},"obj":"HP:0000252"},{"id":"TI1","span":{"begin":38,"end":50},"obj":"HP:0000252"},{"id":"TI2","span":{"begin":76,"end":89},"obj":"HP:0004322"},{"id":"AB2","span":{"begin":374,"end":397},"obj":"HP:0001135"},{"id":"AB3","span":{"begin":403,"end":409},"obj":"HP:0000545"},{"id":"AB4","span":{"begin":598,"end":611},"obj":"HP:0004322"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":95,"end":109},"obj":"ORDO:193"},{"id":"AB1","span":{"begin":660,"end":674},"obj":"ORDO:193"},{"id":"AB2","span":{"begin":1065,"end":1079},"obj":"ORDO:193"},{"id":"AB3","span":{"begin":1234,"end":1248},"obj":"ORDO:193"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":38,"end":50},"obj":"DiseaseClass:D008831"},{"id":"T2","span":{"begin":52,"end":70},"obj":"DiseaseClass:D008607"},{"id":"T3","span":{"begin":76,"end":89},"obj":"DiseaseClass:D006130"},{"id":"T4","span":{"begin":95,"end":109},"obj":"Modifier:C536438"},{"id":"T5","span":{"begin":179,"end":191},"obj":"DiseaseClass:D008831"},{"id":"T6","span":{"begin":205,"end":232},"obj":"DiseaseClass:D006130"},{"id":"T7","span":{"begin":238,"end":256},"obj":"DiseaseClass:D008607"},{"id":"T8","span":{"begin":363,"end":372},"obj":"DiseaseClass:D009123"},{"id":"T9","span":{"begin":374,"end":397},"obj":"DiseaseClass: D015862+D058499"},{"id":"T10","span":{"begin":403,"end":409},"obj":"DiseaseClass:D009216"},{"id":"T11","span":{"begin":574,"end":592},"obj":"DiseaseClass:D008607"},{"id":"T12","span":{"begin":598,"end":611},"obj":"DiseaseClass:D006130"},{"id":"T13","span":{"begin":660,"end":674},"obj":"SpecificDisease:C536438"},{"id":"T14","span":{"begin":1065,"end":1079},"obj":"SpecificDisease:C536438"},{"id":"T15","span":{"begin":1234,"end":1248},"obj":"SpecificDisease:C536438"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBI-Disease-Train","denotations":[{"id":"T2446","span":{"begin":38,"end":50},"obj":"DiseaseClass"},{"id":"T2447","span":{"begin":52,"end":70},"obj":"DiseaseClass"},{"id":"T2448","span":{"begin":76,"end":89},"obj":"DiseaseClass"},{"id":"T2449","span":{"begin":95,"end":109},"obj":"Modifier"},{"id":"T2450","span":{"begin":179,"end":191},"obj":"DiseaseClass"},{"id":"T2451","span":{"begin":205,"end":232},"obj":"DiseaseClass"},{"id":"T2452","span":{"begin":238,"end":256},"obj":"DiseaseClass"},{"id":"T2453","span":{"begin":363,"end":372},"obj":"DiseaseClass"},{"id":"T2454","span":{"begin":374,"end":397},"obj":"DiseaseClass"},{"id":"T2455","span":{"begin":403,"end":409},"obj":"DiseaseClass"},{"id":"T2456","span":{"begin":574,"end":592},"obj":"DiseaseClass"},{"id":"T2457","span":{"begin":598,"end":611},"obj":"DiseaseClass"},{"id":"T2458","span":{"begin":660,"end":674},"obj":"SpecificDisease"},{"id":"T2459","span":{"begin":1065,"end":1079},"obj":"SpecificDisease"},{"id":"T2460","span":{"begin":1234,"end":1248},"obj":"SpecificDisease"}],"attributes":[{"id":"A2446","pred":"database_id","subj":"T2446","obj":"D008831"},{"id":"A2447","pred":"database_id","subj":"T2447","obj":"D008607"},{"id":"A2448","pred":"database_id","subj":"T2448","obj":"D006130"},{"id":"A2449","pred":"database_id","subj":"T2449","obj":"C536438"},{"id":"A2450","pred":"database_id","subj":"T2450","obj":"D008831"},{"id":"A2451","pred":"database_id","subj":"T2451","obj":"D006130"},{"id":"A2452","pred":"database_id","subj":"T2452","obj":"D008607"},{"id":"A2453","pred":"database_id","subj":"T2453","obj":"D009123"},{"id":"A2454","pred":"database_id","subj":"T2454","obj":" D015862+D058499"},{"id":"A2455","pred":"database_id","subj":"T2455","obj":"D009216"},{"id":"A2456","pred":"database_id","subj":"T2456","obj":"D008607"},{"id":"A2457","pred":"database_id","subj":"T2457","obj":"D006130"},{"id":"A2458","pred":"database_id","subj":"T2458","obj":"C536438"},{"id":"A2459","pred":"database_id","subj":"T2459","obj":"C536438"},{"id":"A2460","pred":"database_id","subj":"T2460","obj":"C536438"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T2446","span":{"begin":38,"end":50},"obj":"DiseaseClass"},{"id":"T2447","span":{"begin":52,"end":70},"obj":"DiseaseClass"},{"id":"T2448","span":{"begin":76,"end":89},"obj":"DiseaseClass"},{"id":"T2449","span":{"begin":95,"end":109},"obj":"Modifier"},{"id":"T2450","span":{"begin":179,"end":191},"obj":"DiseaseClass"},{"id":"T2451","span":{"begin":205,"end":232},"obj":"DiseaseClass"},{"id":"T2452","span":{"begin":238,"end":256},"obj":"DiseaseClass"},{"id":"T2453","span":{"begin":363,"end":372},"obj":"DiseaseClass"},{"id":"T2454","span":{"begin":374,"end":397},"obj":"DiseaseClass"},{"id":"T2455","span":{"begin":403,"end":409},"obj":"DiseaseClass"},{"id":"T2456","span":{"begin":574,"end":592},"obj":"DiseaseClass"},{"id":"T2457","span":{"begin":598,"end":611},"obj":"DiseaseClass"},{"id":"T2458","span":{"begin":660,"end":674},"obj":"SpecificDisease"},{"id":"T2459","span":{"begin":1065,"end":1079},"obj":"SpecificDisease"},{"id":"T2460","span":{"begin":1234,"end":1248},"obj":"SpecificDisease"}],"attributes":[{"id":"A2446","pred":"database_id","subj":"T2446","obj":"D008831"},{"id":"A2447","pred":"database_id","subj":"T2447","obj":"D008607"},{"id":"A2448","pred":"database_id","subj":"T2448","obj":"D006130"},{"id":"A2449","pred":"database_id","subj":"T2449","obj":"C536438"},{"id":"A2450","pred":"database_id","subj":"T2450","obj":"D008831"},{"id":"A2451","pred":"database_id","subj":"T2451","obj":"D006130"},{"id":"A2452","pred":"database_id","subj":"T2452","obj":"D008607"},{"id":"A2453","pred":"database_id","subj":"T2453","obj":"D009123"},{"id":"A2454","pred":"database_id","subj":"T2454","obj":" D015862+D058499"},{"id":"A2455","pred":"database_id","subj":"T2455","obj":"D009216"},{"id":"A2456","pred":"database_id","subj":"T2456","obj":"D008607"},{"id":"A2457","pred":"database_id","subj":"T2457","obj":"D006130"},{"id":"A2458","pred":"database_id","subj":"T2458","obj":"C536438"},{"id":"A2459","pred":"database_id","subj":"T2459","obj":"C536438"},{"id":"A2460","pred":"database_id","subj":"T2460","obj":"C536438"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":38,"end":50},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":52,"end":70},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":76,"end":89},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":95,"end":109},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":179,"end":256},"obj":"CompositeMention"},{"id":"T6","span":{"begin":374,"end":397},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":574,"end":592},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":598,"end":611},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":660,"end":674},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":1065,"end":1079},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":1234,"end":1248},"obj":"SpecificDisease"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":38,"end":50},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":52,"end":70},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":76,"end":89},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":95,"end":109},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":179,"end":191},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":238,"end":256},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":374,"end":397},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":403,"end":409},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":574,"end":592},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":598,"end":611},"obj":"DiseaseClass"},{"id":"T11","span":{"begin":660,"end":674},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1065,"end":1079},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1234,"end":1248},"obj":"SpecificDisease"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":38,"end":50},"obj":"DiseaseClass"},{"id":"T2","span":{"begin":52,"end":70},"obj":"DiseaseClass"},{"id":"T3","span":{"begin":76,"end":89},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":95,"end":109},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":179,"end":191},"obj":"DiseaseClass"},{"id":"T6","span":{"begin":238,"end":256},"obj":"DiseaseClass"},{"id":"T7","span":{"begin":363,"end":372},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":374,"end":397},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":403,"end":409},"obj":"DiseaseClass"},{"id":"T10","span":{"begin":574,"end":592},"obj":"DiseaseClass"},{"id":"T11","span":{"begin":598,"end":611},"obj":"DiseaseClass"},{"id":"T12","span":{"begin":660,"end":674},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1065,"end":1079},"obj":"SpecificDisease"},{"id":"T14","span":{"begin":1234,"end":1248},"obj":"SpecificDisease"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":38,"end":50},"obj":"CompositeMention"},{"id":"T2","span":{"begin":52,"end":70},"obj":"CompositeMention"},{"id":"T3","span":{"begin":76,"end":89},"obj":"CompositeMention"},{"id":"T4","span":{"begin":95,"end":109},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":179,"end":256},"obj":"CompositeMention"},{"id":"T6","span":{"begin":363,"end":372},"obj":"Modifier"},{"id":"T7","span":{"begin":374,"end":397},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":403,"end":409},"obj":"Modifier"},{"id":"T9","span":{"begin":574,"end":592},"obj":"CompositeMention"},{"id":"T10","span":{"begin":598,"end":611},"obj":"CompositeMention"},{"id":"T11","span":{"begin":660,"end":674},"obj":"SpecificDisease"},{"id":"T12","span":{"begin":1065,"end":1079},"obj":"SpecificDisease"},{"id":"T13","span":{"begin":1234,"end":1248},"obj":"SpecificDisease"}],"text":"Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.\nA syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition varied among the closely related patients. Because of absence of a distinctive facial appearance, the degree of mental retardation, and short stature, the initially considered clinical diagnosis of Cohen syndrome was withdrawn and a novel genetic entity was assumed. Homozygosity mapping in this family assigned the gene to a 26.8-cM region on the chromosome band 8q21.3 -22.1, between the microsatellites at D8S270 and D8S514. The maximum two-point LOD score was found for marker at D8S267 (Zmax=3.237 at Omax=0.00). Intriguingly enough, the identified gene region overlaps the refined gene region for Cohen syndrome (COH1) [Kolehmainen et al., 1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype."}