| 1 | BBS17, LZTFL1 |
| 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. | |
| Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H. | |
| J Med Genet 49(5):317-21. doi: 10.1136/jmedgenet-2012-100737. Epub 2012 Apr 17. 2012 | |