V. Bennouna Greene

Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies

H. Dollfus, J. Danse, F. Veillon, 2009, American journal of medical genetics. Part A.

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

N. Katsanis, A. Toutain, C. Redin, 2011, Molecular Syndromology.