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
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Authors
Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
Terms of use
- Copyright date:
- 2004
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