Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

BACKGROUND: Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often crucial for the definition of app...

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Detalles Bibliográficos
Autores principales: Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567512/
https://www.ncbi.nlm.nih.gov/pubmed/31196119
http://dx.doi.org/10.1186/s13052-019-0659-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567512/
https://www.ncbi.nlm.nih.gov/pubmed/31196119
http://dx.doi.org/10.1186/s13052-019-0659-1

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