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

@article{Gao2001MutationsII,
  title={Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1},
  author={Bo Gao and Jingzhi Guo and Chaowen She and Anli Shu and Maosheng Yang and Zheng Tan and Xinping Yang and Shengzhen Guo and Guoying Feng and Lin He},
  journal={Nature Genetics},
  year={2001},
  volume={28},
  pages={386-388}
}
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 heterozygous missense mutations in the region encoding the… CONTINUE READING