Dentici-Novelli neurodevelopmental syndrome is a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. It has been reported that mutations in ZNF526 cause this disease.
Dentici ML, Alesi V, Quinodoz M, Robens B, Guerin A, Lebon S, Poduri A, Travaglini L, Graziola F, Afenjar A, Keren B, Licursi V, Capuano A, Dallapiccola B, Superti-Furga A, Novelli A
タイトル
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
