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Article

Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.

Eye (London, England) - 1 Nov 2023

Zhong Junwei, Xie Yue, Ye Hanwen, Chen Chunjie, Sun Tengyang, Xu Ke, Zhang Xiaohui, Li Yang

Abstract excerpt

PURPOSE: Bardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy. The aim of this study was to describe the clinical and genetic features of a cohort of Chinese patients carrying biallelic BBS gene variants. METHODS: We recruited 34 patients from 31 unrelated pedigrees who carried biallelic pathogenic variants in BBS genes. All patients underwent ophthalmic and systematic evaluations, as well as...

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PMID: 37031301
DOI: 10.1038/s41433-023-02516-w
PMCID: PMC10630479

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