A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report

Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ systems. The core features of the syndrome include ret...

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Detalles Bibliográficos
Autores principales: Focșa, Ina Ofelia, Budișteanu, Magdalena, Burloiu, Carmen, Khan, Sheraz, Sadeghpour, Azita, Bohîlțea, Laurențiu C., Davis, Erica E., Bălgrădean, Mihaela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567465/
https://www.ncbi.nlm.nih.gov/pubmed/34760276
http://dx.doi.org/10.3892/br.2021.1479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567465/
https://www.ncbi.nlm.nih.gov/pubmed/34760276
http://dx.doi.org/10.3892/br.2021.1479

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