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

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

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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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Huvudupphovsmän: van den Elzen, M, Twigg, SR, Goos, J, Hoogeboom, A, van den Ouweland, A, Wilkie, A, Mathijssen, I
Materialtyp: Journal article
Språk:English
Publicerad: 2014

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