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

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...

Source: Orphanet Journal of Rare Diseases - April 8, 2024 Category: Internal Medicine Authors: Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang and Xiumin Wang Tags: Research Source Type: research