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Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Abstract:

Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Eph receptor tyrosine kinases. Here, we describe two unrelated families, in both of which a mother and her son have proven mutations in EFNB1. The mothers have classical features of CFNS; although th...

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Publication status:
Published

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Publisher copy:
10.1038/sj.ejhg.5201633

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Journal:
European journal of human genetics : EJHG
Volume:
14
Issue:
7
Pages:
884-887
Publication date:
2006-07-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:da3a11f4-e538-41bb-8b9b-f87a602fbf0c
Source identifiers:
119573
Local pid:
pubs:119573

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