Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes-Reference-Cited by-同舟云学术

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

Published:2013-01-17 Issue:8 Volume:22 Page:1654-1662
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

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 (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/8/1654/14141143/ddt015.pdf

Reference33 articles.

1. Craniofrontonasal dysplasia;Cohen;Birth Defects,1979

2. Frontonasal dysplasia with coronal craniosynostosis in three sibs;Slover;Birth Defects,1979

3. Craniofrontonasal syndrome;Cohen,2000

4. EFNB1 and EFNA4 in craniofrontonasal syndrome and craniosynostosis;Twigg,2007

5. Radiocephalometric findings in a family with craniofrontonasal dysplasia;Pruzansky;Birth Defects,1982

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