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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...
Gorde:
| Egile Nagusiak: | , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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BMJ Group
2006
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| Gaiak: | |
| Sarrera elektronikoa: | 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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