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Journal article

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Abstract:

FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. Here, we identify new recessive FOXE3 mutations causative for microphthalmia, sclerocornea, primary aphakia, and glaucoma in two extended consanguineous families by SNP array genotyping followed by a candidate gene approach. Following an additional screen of 236 subjects with developmental eye anomalies, we report two furthe...

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Publication status:
Published

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Publisher copy:
10.1002/humu.21079

Authors


Osborne, RJ More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine, BHF Centre of Research Excellence
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Journal:
Human mutation
Volume:
30
Issue:
10
Pages:
1378-1386
Publication date:
2009-10-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:f1594dba-f7a8-4e31-8f68-6c00c544288f
Source identifiers:
71839
Local pid:
pubs:71839

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