2003年7月14日 · Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily characterized by retinal cone-rod dystrophy, obesity and related complications, postaxial …

Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female …

Novel mutation (c.1181_1182insGCATTTATACC) in BBS10 (p.S396Lfs*6) found in Tunisian families with Bardet-Biedl syndrome. A rare variant (c.1189A>G [p.Ile397Val]; rs202042386) …

The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to …

2024年12月24日 · BBS10 (Bardet-Biedl Syndrome 10) is a Protein Coding gene. Diseases associated with BBS10 include Bardet-Biedl Syndrome 10 and Bardet-Biedl Syndrome. …

2024年7月31日 · Bardet-Biedl syndrome (BBS) (OMIM#209901; ORPHA: 110) is an emblematic ciliopathy affecting multiple organs and requiring multidisciplinary care from early life on. BBS...

Bardet–Biedl syndrome 10, also known as BBS10 is a human gene. [5] The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular …

Bardet-Biedl 综合征是一种常染色体隐性遗传病，其特征是进行性视网膜变性、肥胖、多指畸形、肾脏畸形和认知障碍。 BBS 基因家族成员编码的蛋白质结构多样，BBS 基因家族成员突变表 …

巴尔得一别德尔综合征 (Bardet-Biedle syndrome BBS)是一种罕见的、常染色体隐性和多系统受累的遗传病，是一类 纤毛紊乱综合征，存在广泛的临床和遗传学异质性。 本征表型常 …

2006年4月2日 · Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be …