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Journal article

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Abstract:

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typical manifestation. Here, we show that the classical female CFNS phenotype is caused by heterozygous loss-of-function mutations in EFNB1, which encodes a member of the ephrin family of transmembran...

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Publication status:
Published

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Publisher copy:
10.1073/pnas.0402819101

Authors


Bochukova, EG More by this author
Robertson, SP More by this author
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Journal:
Proceedings of the National Academy of Sciences of the United States of America
Volume:
101
Issue:
23
Pages:
8652-8657
Publication date:
2004-06-05
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
URN:
uuid:c5549562-a335-4f9d-9e05-b87d425d2afb
Source identifiers:
119949
Local pid:
pubs:119949

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