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A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies
We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation co...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736042/ https://ncbi.nlm.nih.gov/pubmed/15805157 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.023564 |
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