Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Human molecular genetics - 15 Apr 2013
Twigg Stephen R F, Babbs Christian, van den Elzen Marijke E P, Goriely Anne, Taylor Stephen, McGowan Simon J, Giannoulatou Eleni, Lonie Lorne, Ragoussis Jiannis, Sadighi Akha Elham, Knight Samantha J L, Zechi-Ceide Roseli M, Hoogeboom Jeannette A M, Pober Barbara R, Toriello Helga V, Wall Steven A, Rita Passos-Bueno M, Brunner Han G, Mathijssen Irene M J, Wilkie Andrew O M
Abstract excerpt
Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but males are usually more mildly affected with hypertelorism as the only feature. X-inactivation is proposed to explain the more severe outcome...
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