Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Abstract

Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. We describe two novel mutations in codons 128 and 130, not previously implicated in BDA1. Furthermore, we identified an independent mutation at… (More)
DOI: 10.1038/ejhg.2009.18

6 Figures and Tables

Topics

  • Presentations referencing similar topics