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

BACKGROUND: Brachydactyly 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...

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Main Authors: Kjaer, K W, Eiberg, H, Hansen, L, van der Hagen, C B, Rosendahl, K, Tommerup, N, Mundlos, S
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2006
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563247/
https://ncbi.nlm.nih.gov/pubmed/16014698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.034058
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