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

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

Abstract 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 definitio...

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Bibliographic Details
Main Authors: Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Italian Journal of Pediatrics
Subjects:
NGS
Bardet-Biedl syndrome
Genetic diagnosis; triallelic inheritance
Online Access:http://link.springer.com/article/10.1186/s13052-019-0659-1

Internet

http://link.springer.com/article/10.1186/s13052-019-0659-1

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