Cargando…
Bardet-Biedl Syndrome, Crohn Disease, Primary Sclerosing Cholangitis, and Autoantibody Positive Thyroiditis: A Case Report and A Review of a Cohort of BBS Patients
Bardet-Biedel syndrome (BBS) is a rare autosomal recessive, genetically heterogeneous ciliopathy. Although the disease has been described in a patient with psoriasis, individuals with BBS are not known to be at risk of developing autoimmune disorders. Our objective was to describe a 14-year-old pati...
Autores principales: | Halac, Ugur, Herzog, Denise |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3426198/ https://www.ncbi.nlm.nih.gov/pubmed/22927860 http://dx.doi.org/10.1155/2012/209827 |
Ejemplares similares
-
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) -
Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
por: Manara, Elena, et al.
Publicado: (2019) -
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
por: Forsythe, Elizabeth, et al.
Publicado: (2023) -
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) -
Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
por: Chamling, Xitiz, et al.
Publicado: (2013)