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,...

Full description

Saved in:
Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2015
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items