Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present. As it is of major importance to adequately counsel patients with EFNB1 mutations an...

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Bibliographic Details
Main Authors: Van Den Elzen, M, Twigg, S, Goos, J, Hoogeboom, A, Van Den Ouweland, A, Wilkie, A, Mathijssen, I
Format: Journal article
Language:English
Published: Nature Publishing Group 2014