A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2
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چکیده
منابع مشابه
A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.
The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...
متن کاملLETTERS TO JMG A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2
The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...
متن کاملIdentification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
Brachydactyly (BD) is a term used to describe inherited anomalies of the hands generally characterised by shortened phalanges or metacarpals. Initially, the brachydactylies were grouped into five different classes (A-E), with three subtypes of A. Later work revised and extended the classification of BD. 3 In type A, shortening is primarily confined to the middle phalanges. Subtype A1 (BDA1, OMI...
متن کاملEvidence for a novel type 1 diabetes susceptibility locus on chromosome 8.
Type 1 diabetes results from a combination of genetic susceptibility and environmental exposures. Susceptibility loci other than HLA and the insulin gene remain to be identified to account for the degree of familial clustering observed in this disorder. Early genome-wide scans provided suggestive evidence of linkage on chromosome 8q, prompting detailed analysis of this region. A total of 20 mic...
متن کاملMild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
The brachydactylies are a heterogeneous group of inherited digital abnormalities originally classified into five types, on the basis of malformation of the digits. Among them, brachydactyly type A1 (BDA-1, MIM 112500), also referred to as Farrabee or Fitch type 9, is mainly characterised by short middle phalanges, which may be fused to the terminal ones. 2 All the small tubular bones tend to be...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.3.186