Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
Sign Up to like & getrecommendations! Published in 2022 at "ACS Omega"
DOI: 10.1021/acsomega.2c04522
Abstract: Bardet-Biedl Syndrome (BBS) is a rare inherited disorder resulting in multiple organ dysfunctions, whose cardinal clinical features include cognitive impairment, obesity, and renal dysfunction. Although it is highly heterogeneous at genetic levels, BBS10 is one… read more here.
Keywords: bardet biedl; missense variants; bbs10; biedl syndrome ... See more keywords
A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.33
Abstract: We report a 10-year-old girl with Bardet–Biedl syndrome caused by a novel mutation in the Bardet–Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She… read more here.
Keywords: bardet biedl; bbs10; mutation; biedl syndrome ... See more keywords