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Article

The characteristics of digenic familial exudative vitreoretinopathy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Nov 2018

Li Yian, Peng Jie, Li Jiakai, Zhang Qi, Li Jing, Zhang Xiang, Fei Ping, She Kaiqin, Zhao Peiquan

Abstract excerpt

AIM: To describe and analyse the clinical and genetic characteristics of digenic familial exudative vitreoretinopathy (FEVR). METHODS: The study cohort consisted of patients with FEVR (n = 13) to identify patients with two mutations in two different genes. A genetic analysis of the LRP5, FZD4, TSPAN12, and ZNF408 genes was performed with next-generation sequencing (NGS). The genotype data obtained from the...

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Source

Identifiers

PMID: 30097784
DOI: 10.1007/s00417-018-4076-8

Genes

FZD4
LRP5
TSPAN12
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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