A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2

摘要

BackgroundBrachydactyly type A2 (OMIM 112600) is characterised by hypoplasia/aplasia of the second middle phalanx of the index finger and sometimes the little finger. BDA2 was first described by Mohr and Wriedt in a large Danish/Norwegian kindred and mutations in BMPR1B were recently demonstrated in two affected families.