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Article

Familial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.

Clinical & experimental ophthalmology - 1 Dec 2025

Wang You, Hou Aohan, Yan Wenjia, Lu Jinglin, Wang Qiong, Chen Limei, Ding Xiaoyan

Abstract excerpt

BACKGROUND: This study investigated the clinical characteristics and the genotype-phenotype correlation of DOCK6-associated autosomal recessive Adams-Oliver Syndrome in a large cohort of familial exudative vitreoretinopathy patients. METHODS: Comprehensive ocular examinations were conducted on probands and their family members. Whole-exome sequencing (WES) was performed on the probands, with Sanger sequencing...

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Source

Identifiers

PMID: 40734490
DOI: 10.1111/ceo.14594

Genes

DOCK6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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