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Journal article

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Abstract:

Familial hypertelorism, characterized by widely spaced eyes, classically shows autosomal dominant inheritance (Teebi type), but some pedigrees are compatible with X-linkage. No mechanism has been described previously, but clinical similarity has been noted to craniofrontonasal syndrome (CFNS), which is caused by mutations in the X-linked EFNB1 gene. Here we report a family in which females in three generations presented with hypertelorism, but lacked either craniosynostosis or a grooved nasal...

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Publication status:
Published

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Publisher copy:
10.1002/humu.21521

Authors


Stewart, HS More by this author
Williams, LJ More by this author
Connell, L More by this author
Goriely, A More by this author
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Journal:
Human mutation
Volume:
32
Issue:
8
Pages:
930-938
Publication date:
2011-08-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:10d81331-ca33-47dc-b746-a46f6e0220f8
Source identifiers:
172257
Local pid:
pubs:172257

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