Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5)...

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Main Authors: Dathe, Katarina, Kjaer, Klaus W., Brehm, Anja, Meinecke, Peter, Nürnberg, Peter, Neto, Jordao C., Brunoni, Decio, Tommerup, Nils, Ott, Claus E., Klopocki, Eva, Seemann, Petra, Mundlos, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667973/
https://ncbi.nlm.nih.gov/pubmed/19327734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.001
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