Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndr...
Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome
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Publisher
United States: National Academy of Sciences
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Language
English
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Publisher
United States: National Academy of Sciences
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Contents
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 classic...
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Full title
Mutations of Ephrin-B1 (EFNB1), a Marker of Tissue Boundary Formation, Cause Craniofrontonasal Syndrome
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TN_cdi_proquest_journals_201358520
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_201358520
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ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.0402819101
