Answering a century old riddle: brachydactyly type A1
نویسندگان
چکیده
منابع مشابه
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1
Mi-Ae Jang, M.D.*, Ok-Hwa Kim, M.D., Sun Wook Kim, M.D., and Chang-Seok Ki, M.D. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Radiology, Woorisoa Children’s Hospital, Seoul; Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University S...
متن کاملA 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 کاملRecessively inherited brachydactyly type C.
The Bell classification of brachydactyly' divides this group of conditions into types Al to A5, B, C, D, and E. Fitch2 in 1979 suggested that types A4 to A5 be omitted because the latter is indistinguishable radiologically from type B, while type A4 is possibly a mild expression of Al. She suggested that type E should be further subdivided depending on which metacarpals are involved. The table ...
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...
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ژورنال
عنوان ژورنال: Cell Research
سال: 2004
ISSN: 1001-0602,1748-7838
DOI: 10.1038/sj.cr.7290218