Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the distal limb joints without a neuromuscular disease. Mutations in at least 8 different genes have been shown to cause DA. Here, we report a 4-gen...

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Detalhes bibliográficos
Main Authors: Daly, Sarah B., Shah, Hitesh, O'Sullivan, James, Anderson, Beverley, Bhaskar, Sanjeev, Williams, Simon, Al-Sheqaih, Nada, Mueed Bidchol, Abdul, Banka, Siddharth, Newman, William G., Girisha, Katta M.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4188168/
https://ncbi.nlm.nih.gov/pubmed/25337069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000365057
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