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Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family

Heterozygous loss-of-function mutations of GDF5 are reported to cause hypoplasia/aplasia of certain skeletal elements (brachydactyly), and heterozygous gain-of-function mutations, occurring either on the gene itself or through the loss of its inhibitor noggin, result in joint fusion (symphalangism)....

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Main Authors: Uyguner, Z.O., Kocaoğlu, M., Toksoy, G., Basaran, S., Kayserili, H.
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3977318/
https://ncbi.nlm.nih.gov/pubmed/24715855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000357264
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