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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

Authors


Poulter, JA More by this author
Davidson, AE More by this author
Gilmour, DF More by this author
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Journal:
Investigative ophthalmology and visual science
Volume:
53
Issue:
6
Pages:
2873-2879
Publication date:
2012-05-05
DOI:
EISSN:
1552-5783
ISSN:
0146-0404
URN:
uuid:28c5e1d5-99a7-4eef-8513-62b40f6448bc
Source identifiers:
320316
Local pid:
pubs:320316

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