Article
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
European journal of human genetics : EJHG - 1 Aug 2014
van den Elzen M E P, Twigg S R F, Goos J A C, Hoogeboom A J M, van den Ouweland A M W, Wilkie A O M, Mathijssen I M J
Abstract excerpt
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 and their parents, and to improve diagnosis of new patients, more information about the phenotypic features is needed....
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