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Article

Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR).

Investigative ophthalmology & visual science - 1 Dec 2016

Seo Soo Hyun, Kim Man Jin, Park Sung Wook, Kim Jeong Hun, Yu Young Suk, Song Ji Yun, Cho Sung Im, Ahn Joo Hyun, Oh Yeon Hee, Lee Jee-Soo, Lee Seungjun, Seong Moon-Woo, Park Sung Sup, Kim Ji Yeon

Abstract excerpt

Purpose: Familial exudative vitreoretinopathy (FEVR) is a rare, hereditary visual disorder. The gene TSPAN12 is associated with autosomal dominant inheritance of FEVR. The prevalence and impact of large deletions/duplications of TSPAN12 on FEVR patients is unknown. To glean better insight of TSPAN12 on FEVR pathology, herein, we describe three FEVR patients with TSPAN12 deletions. Methods: Thirty-three Korean...

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Source

Identifiers

PMID: 28002565
DOI: 10.1167/iovs.16-20585

Genes

TSPAN12
FZD4
LRP5
NDP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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