Hepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: a case report
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Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic variants exhibiting the c... ...
