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Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

Abstract:

Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. HJMD is caused by mutations in CDH3 which encodes cadherin-3, a protein expressed in retinal pigment epithelium (RPE) cells that may have a key role in intercellular adhesion. We present a case of HJMD and analyse its phenotypic and molecular characteristics to assess the potential for retinal gene therapy as a means of preventing severe visual loss in this conditio...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/srep23674

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Publisher:
Nature Publishing Group
Journal:
Scientific reports More from this journal
Volume:
6
Issue:
1
Pages:
23674
Publication date:
2016-05-09
Acceptance date:
2016-02-24
DOI:
EISSN:
2045-2322
Pmid:
27157923
Language:
English
Keywords:
Pubs id:
pubs:623115
UUID:
uuid:d4630025-9347-4900-976f-1f97179c5843
Local pid:
pubs:623115
Source identifiers:
623115
Deposit date:
2017-03-01

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