Association of mutations in FLNA with craniosynostosis

Mutations of FLNA, an X-linked gene that encodes the cytoskeletal protein filamin A, cause diverse and distinct phenotypes including periventricular nodular heterotopia and otopalatodigital spectrum disorders (OPDS). Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis,...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Fennell, Nathalie, Foulds, Nicola, Johnson, Diana S, Wilson, Louise C, Wyatt, Michelle, Robertson, Stephen P, Johnson, David, Wall, Steven A, Wilkie, Andrew OM
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4519681/
https://ncbi.nlm.nih.gov/pubmed/25873011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.31
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