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Article

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.

European journal of ophthalmology - 1 Nov 2023

Hu Feng, Li Qian, Shi Jie, Wang Ru, Zhang Yongpeng, Cao Xinyang, Zhang Xin, Ma Ya, Wang Ge, Peng Xiaoyan

Abstract excerpt

PURPOSE: This study aimed to evaluate the clinical and genetic characteristics of eight members from a Chinese Han family who displayed autosomal recessive bestrophinopathy (ARB)-like retinal changes in autosomal dominant (AD) inheritance pattern. METHODS: Clinical investigations included slit-lamp, tonometry, fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37019433
DOI: 10.1177/11206721231167767

Genes

BEST1
TES

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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