Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do

Bardet – Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical features are: retinal cone-rod dystrophy, central ob...

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Detalles Bibliográficos
Autores principales: Caba, Lavinia, Florea, Laura, Braha, Elena Emanuela, Lupu, Valeriu Vasile, Gorduza, Eusebiu Vlad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526427/
https://www.ncbi.nlm.nih.gov/pubmed/36193191
http://dx.doi.org/10.2147/JMDH.S274739

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