Article
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
Human genetics - 1 Oct 2002
McCready M Elizabeth, Sweeney Elizabeth, Fryer Allan E, Donnai Dian, Baig Akeel, Racacho Lemuel, Warman Matthew L, Hunter Alasdair G W, Bulman Dennis E
Abstract excerpt
Brachydactyly type A1 (BDA1) was the first disorder described in terms of autosomal dominant Mendelian inheritance. Early in the 1900s Farabee and Drinkwater described a number of families with BDA1. Examination of two of Drinkwater's families has revealed that, although they are not known to be related, both share a common mutation within the Indian hedgehog gene ( IHH). This novel mutation is a guanine to...
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