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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...
Autores principales: | Melluso, Andrea, Secondulfo, Floriana, Capolongo, Giovanna, Capasso, Giovambattista, Zacchia, Miriam |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2023
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Materias: | |
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 |
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