Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly

✍ Scribed by Marion, V.; Stutzmann, F.; Gerard, M.; De Melo, C.; Schaefer, E.; Claussmann, A.; Helle, S.; Delague, V.; Souied, E.; Barrey, C.; Verloes, A.; Stoetzel, C.; Dollfus, H.

• Book ID: 121651762
• Publisher: BMJ Publishing Group
• Year: 2012
• Tongue: English
• Weight: 482 KB
• Volume: 49
• Category: Article
• ISSN: 0022-2593
• DOI: 10.1136/jmedgenet-2012-100737