Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
Adel ShalataSupanun LauhasurayotinZvi LeibovitzHongbing LiDiane HebertSanthosh DhanrajYarin HadidMohammed MahroumJacob BajarSandro EgenburgAyala AradMordechai ShohatSami HaddadHassan BakryHoutan MoshiriStephen W SchererShay TzurYigal DrorPublished in: Journal of medical genetics (2018)
We propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow.