Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from othe...

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Detalles Bibliográficos
Autores principales: Melluso, Andrea, Secondulfo, Floriana, Capolongo, Giovanna, Capasso, Giovambattista, Zacchia, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896974/
https://www.ncbi.nlm.nih.gov/pubmed/36741589
http://dx.doi.org/10.2147/TCRM.S338653

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9896974/
https://www.ncbi.nlm.nih.gov/pubmed/36741589
http://dx.doi.org/10.2147/TCRM.S338653

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