Exome sequencing identifies mutations in LZTFL1, a bbsome and smoothened trafficking regulator, in a family with bardetebiedl syndrome with situs inversus and insertional polydactyly

✍ Scribed by Marion, Vincent (author);Stutzmann, Fanny (author);Gérard, Marion (author);De Melo, Charlie (author);Schaefer, Elise (author);Claussmann, Aurélie (author);Hellé, Sophie (author);Delague, Valérie (author);Souied, Eric (author);Barrey, Catherine (author);Verloes, Alain (author);Stoetzel, Corinne (author);Dollfus, Hélène (author)

• Book ID: 121651763
• Publisher: BMJ Publishing Group
• Year: 2012
• Tongue: English
• Weight: 482 KB
• Volume: 49
• Category: Article
• ISSN: 0022-2593
• DOI: 10.1136/jmedgenet-2012-100737