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Article

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.

Orphanet journal of rare diseases - 8 Apr 2024

Gao Shiyang, Zhang Qianwen, Ding Yu, Wang Libo, Li Zhiying, Hu Feihan, Yao Ru-En, Yu Tingting, Chang Guoying, Wang Xiumin

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis. Disability and mortality rates are high in BBS patients; therefore, it is urgent to improve our understanding of BBS. Thus, our study aimed to...

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Identifiers

PMID: 38584252
DOI: 10.1186/s13023-024-03150-9
PMCID: PMC11000329

Genes

BBS2
BBS10
BBS7

Provenance

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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