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PubMed:23924173 JSONTXT 13 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-128 Sentence denotes Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
T1 0-128 Sentence denotes Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
TextSentencer_T2 129-140 Sentence denotes BACKGROUND:
T2 129-140 Sentence denotes BACKGROUND:
TextSentencer_T3 141-340 Sentence denotes Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness.
T3 141-340 Sentence denotes Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness.
TextSentencer_T4 341-429 Sentence denotes KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations.
T4 341-429 Sentence denotes KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations.
TextSentencer_T5 430-487 Sentence denotes Mutations in African patients have been rarely described.
T5 430-487 Sentence denotes Mutations in African patients have been rarely described.
TextSentencer_T6 488-506 Sentence denotes CASE PRESENTATION:
T6 488-506 Sentence denotes CASE PRESENTATION:
TextSentencer_T7 507-631 Sentence denotes We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad.
T7 507-631 Sentence denotes We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad.
TextSentencer_T8 632-709 Sentence denotes The two patients were heterozygous for the most frequent p.Asp50Asn mutation.
T8 632-709 Sentence denotes The two patients were heterozygous for the most frequent p.Asp50Asn mutation.
TextSentencer_T9 710-894 Sentence denotes This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific.
T9 710-894 Sentence denotes This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific.
TextSentencer_T10 895-907 Sentence denotes CONCLUSIONS:
T10 895-907 Sentence denotes CONCLUSIONS:
TextSentencer_T11 908-1024 Sentence denotes Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans.
T11 908-1024 Sentence denotes Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans.
TextSentencer_T12 1025-1238 Sentence denotes These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.
T12 1025-1238 Sentence denotes These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.