Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

Bedoyan JKrikor, Schaibley VM, Peng W, et al. "Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder." J. Med. Genet.. 2012;49(5):332-40.