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Article

Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.

BMC ophthalmology - 24 Jul 2024

Zhao Dongsheng, Gu Victoria Y, Wang Yafu, Peng Jie, Lyu Jiao, Fei Ping, Xu Yu, Zhang Xiang, Zhao Peiquan

Abstract excerpt

PURPOSE: To provide a genotype and phenotype characterization of the BEST1 mutation in Chinese patients with autosomal recessive bestrophinopathy (ARB) through multimodal imaging and next-generation sequencing (NGS). METHODS: Seventeen patients from 17 unrelated families of Chinese origin with ARB were included in a retrospective cohort study. Phenotypic characteristics, including anterior segment features, were...

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Identifiers

PMID: 39048936
DOI: 10.1186/s12886-024-03574-8
PMCID: PMC11267682

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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