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Journal article

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

Abstract:

PURPOSE: Familial exudative vitreoretinopathy (FEVR) is an inherited disorder that disrupts the development of the retinal vasculature and can result in blindness. FEVR is genetically heterogeneous and mutations in four genes, NDP, FZD4, LRP5, and TSPAN12, encoding components of a novel ligand-receptor complex that activates the Norrin-β-catenin signaling pathway, account for approximately 50% of cases. We recently identified mutations in TSPAN12 as a cause of dominant FEVR. The purpose of t...

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Publisher copy:
10.1167/iovs.11-8629

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Journal:
Investigative ophthalmology and visual science
Volume:
53
Issue:
6
Pages:
2873-2879
Publication date:
2012-05-01
DOI:
EISSN:
1552-5783
ISSN:
0146-0404
Source identifiers:
320316
Language:
English
Keywords:
Pubs id:
pubs:320316
UUID:
uuid:28c5e1d5-99a7-4eef-8513-62b40f6448bc
Local pid:
pubs:320316
Deposit date:
2012-12-20

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