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

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

Abstract 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 mortal...

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Bibliographic Details
Main Authors:	Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang
Format:	Article
Language:	English
Published:	BMC 2024-04-01
Series:	Orphanet Journal of Rare Diseases
Subjects:	Bardet-Biedl syndrome (BBS) Rare disease Next-generation sequencing Gene variation Genotype–phenotype correlation
Online Access:	https://doi.org/10.1186/s13023-024-03150-9

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