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Article

Comparisons of Genetic and Clinical Findings in Patients with Syndromic to Non-Syndromic Familial Exudative Vitreoretinopathy.

International journal of molecular sciences - 8 Apr 2026

Naruse Sho, Hayashi Takaaki, Tsukahara-Kawamura Tomoko, Matsushita Itsuka, Nagata Tatsuo, Nishina Sachiko, Endo Takao, Kusaka Shunji, Kondo Hiroyuki

Abstract excerpt

To compare the genetic causes, prevalence, and clinical characteristics of syndromic and non-syndromic familial exudative vitreoretinopathy (FEVR). A total of 281 patients with FEVR who underwent clinical and genetic evaluation at five ophthalmological institutions in Japan between 2010 and 2023 were included. Whole-exome sequencing, Sanger sequencing, or karyotype analysis was performed using blood samples from...

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Identifiers

PMID: 42073993
DOI: 10.3390/ijms27083348
PMCID: PMC13115744

Genes

CTNNB1
DOCK6
KIF11
LRP5
NDP
TSPAN12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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