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Autor:
M E P van den Elzen, A. J. M. Hoogeboom, A. M. W. Van Den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen, Jacqueline A C Goos, Stephen R.F. Twigg
Publikováno v:
European Journal of Human Genetics, 22(8), 995-1001. Nature Publishing Group
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 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8773ee1ff77365ef79ce88d6430682
https://doi.org/10.1038/ejhg.2013.273
https://doi.org/10.1038/ejhg.2013.273
