A. Claussmann

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

E. Souied, A. Verloes, H. Dollfus, 2012, Journal of Medical Genetics.

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

N. Petrovsky, H. Dollfus, N. Messaddeq, 2012, Cell metabolism.

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical genetics.

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical genetics.