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BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.

Molecular genetics & genomic medicine - 1 Jan 2023

Yang Shangying, Li Zhen, Cheng Wanyu, Ma Meijiao, Qi Rui, Rui Xue, Ren Yinghua, Sheng Xunlun, Rong Weining

Abstract excerpt

PURPOSE: To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. METHOD: A total of 25 participants including 13 patients and 12 healthy family members from 6 Chinese families with bestrophinopathies were available for genetic and clinical analysis. All of the patients were subjected to comprehensive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36378562
DOI: 10.1002/mgg3.2095
PMCID: PMC9834154

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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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