Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

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 mi...

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Bibliographic Details
Main Authors: Twigg, SR, Babbs, C, van den Elzen, M, Goriely, A, Taylor, S, McGowan, S, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, S, Zechi-Ceide, R, Hoogeboom, J, Pober, B, Toriello, H, Wall, SA, Rita Passos-Bueno, M, Brunner, H, Mathijssen, I, Wilkie, A
Format: Journal article
Language:English
Published: Oxford University Press 2013

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