Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS feat...

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Detalles Bibliográficos
Autores principales: Schaefer, Elise, Delvallée, Clarisse, Mary, Laura, Stoetzel, Corinne, Geoffroy, Véronique, Marks-Delesalle, Caroline, Holder-Espinasse, Muriel, Ghoumid, Jamal, Dollfus, Hélène, Muller, Jean
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363664/
https://www.ncbi.nlm.nih.gov/pubmed/30761183
http://dx.doi.org/10.3389/fgene.2019.00021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363664/
https://www.ncbi.nlm.nih.gov/pubmed/30761183
http://dx.doi.org/10.3389/fgene.2019.00021

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