Cargando…
Ocular Characteristics of Patients With Bardet–Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort
Bardet–Biedl syndrome (BBS; OMIM 209900) is a rare genetic disease causing damage to multiple organs and affecting patients’ quality of life in late adolescence or early adulthood. In this study, the ocular characteristics including morphology and function, were analyzed in 12 BBS patients from 10 C...
Autores principales: | Meng, Xiaohong, Long, Yanling, Ren, Jiayun, Wang, Gang, Yin, Xin, Li, Shiying |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7991091/ https://www.ncbi.nlm.nih.gov/pubmed/33777945 http://dx.doi.org/10.3389/fcell.2021.635216 |
Ejemplares similares
-
Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration
por: Song, Ping, et al.
Publicado: (2020) -
Computational and Structural Analysis to Assess the
Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified
in Bardet-Biedl Syndrome 10 Gene (BBS10)
por: Gupta, Neha, et al.
Publicado: (2022) -
Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice
por: Stubbs, Toneisha, et al.
Publicado: (2023) -
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells
por: Williams, James, et al.
Publicado: (2023) -
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)
por: Álvarez-Satta, María, et al.
Publicado: (2017)