1. 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. Issue 5 (17th April 2012) Authors: Marion, Vincent; Stutzmann, Fanny; Gérard, Marion; De Melo, Charlie; Schaefer, Elise; Claussmann, Aurélie; Hellé, Sophie; Delague, Valérie; Souied, Eric; Barrey, Catherine; Verloes, Alain; Stoetzel, Corinne; Dollfus, Hélène Journal: Journal of medical genetics Issue: Volume 49:Issue 5(2012) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗