Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T>C, p.(C53R)) or...

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Autori principali: Graul-Neumann, Luitgard M, Deichsel, Alexandra, Wille, Ulrike, Kakar, Naseebullah, Koll, Randi, Bassir, Christian, Ahmad, Jamil, Cormier-Daire, Valerie, Mundlos, Stefan, Kubisch, Christian, Borck, Guntram, Klopocki, Eva, Mueller, Thomas D, Doelken, Sandra C, Seemann, Petra
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023204/
https://ncbi.nlm.nih.gov/pubmed/24129431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.222
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