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

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 m...

Source: Italian Journal of Pediatrics - June 13, 2019 Category: Pediatrics 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 Buzzonett Tags: Research Source Type: research