Pubblicazioni

Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

2021 - JOURNAL OF MEDICAL GENETICS

Dentici, M. L.; 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.