Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

Volume: 28, Issue: 4, Pages: 386 - 388
Published: Aug 1, 2001
Abstract
Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was first identified by Farabee in 1903 (ref. 2), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three...
Paper Details
Title
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
Published Date
Aug 1, 2001
Volume
28
Issue
4
Pages
386 - 388
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