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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Publicado en:Eur J Hum Genet
Autores principales: 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
Lenguaje:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en línea: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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