PubMed:9012416 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9012416","sourcedb":"PubMed","sourceid":"9012416","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9012416","text":"A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.\nDistal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.","tracks":[{"project":"BioLarkPubmedHPO","denotations":[{"id":"HP:0005684","span":{"begin":60,"end":81},"obj":"HP:0005684"},{"id":"HP:0005188","span":{"begin":180,"end":212},"obj":"HP:0005188"},{"id":"HP:0002803","span":{"begin":189,"end":212},"obj":"HP:0002803"},{"id":"T1","span":{"begin":60,"end":81},"obj":"HP:0005684"},{"id":"T2","span":{"begin":180,"end":212},"obj":"HP:0005188"},{"id":"T3","span":{"begin":189,"end":212},"obj":"HP:0002803"},{"id":"T1","span":{"begin":60,"end":81},"obj":"HP:0005684"},{"id":"T2","span":{"begin":180,"end":212},"obj":"HP:0005188"},{"id":"T3","span":{"begin":189,"end":212},"obj":"HP:0002803"},{"id":"T1","span":{"begin":60,"end":81},"obj":"HP:0005684"},{"id":"T2","span":{"begin":180,"end":212},"obj":"HP:0005188"},{"id":"T3","span":{"begin":189,"end":212},"obj":"HP:0002803"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"attributes":[{"subj":"HP:0005684","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0005188","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0002803","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T3","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T3","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T3","pred":"source","obj":"BioLarkPubmedHPO"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"BioLarkPubmedHPO","color":"#c393ec","default":true}]}]}}