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Journal article

Parent-of-origin effects in SOX2 anophthalmia syndrome.

Abstract:

PURPOSE: Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. The syndrome is usually caused by de novo mutations or deletions in the transcription factor SOX2. To investigate any potential parental susceptibility factors, we set out to determine the parent of origin of the mutations or deletions, and following this, to det...

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Publication status:
Published

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Authors


Osborne, RJ More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, NPEU
Journal:
Molecular vision
Volume:
17
Issue:
333
Pages:
3097-3106
Publication date:
2011
EISSN:
1090-0535
ISSN:
1090-0535
URN:
uuid:45c117f7-02fe-4074-8cd9-95af5a6d5ae4
Source identifiers:
236826
Local pid:
pubs:236826

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