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

Author: 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   Akha Elham Sadighi   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.  

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.22, Iss.8, 2013-04, pp. : 1654-1662

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Abstract