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Article

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

American journal of human genetics - 1 Jun 2017

Panagiotou Evangelia S, Sanjurjo Soriano Carla, Poulter James A, Lord Emma C, Dzulova Denisa, Kondo Hiroyuki, Hiyoshi Atsushi, Chung Brian Hon-Yin, Chu Yoyo Wing-Yiu, Lai Connie H Y, Tafoya Mark E, Karjosukarso Dyah, Collin Rob W J, Topping Joanne, Downey Louise M, Ali Manir, Inglehearn Chris F, Toomes Carmel

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The majority of mutations identified in FEVR are found within four genes that encode the receptor complex (FZD4, LRP5, and TSPAN12) and ligand (NDP) of a molecular pathway that controls angiogenesis, the Norrin-β-catenin signaling pathway. However, half of all...

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Identifiers

PMID: 28575650
DOI: 10.1016/j.ajhg.2017.05.001
PMCID: PMC5473728

Genes

CTNNB1
FZD4
LRP5
NDP
TSPAN12

Variants

Provenance

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Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.PMID 28575650Read ↗

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