Ozkan Kart P, Citli S, Yildiz N, Cansu A, et al. A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay. Brain Dev 2023 Feb 7:S0387-7604(23)00019-0. doi: 10.1016/j.braindev.2023.
PMID: 36759255