Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts
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DOI: 10.1038/s41431-025-01918-6
Abstract: Pontocerebellar hypoplasia (PCH) represents a group of disorders characterized by cerebellum and pons hypoplasia, variable cerebral involvement, microcephaly, severe global developmental delay (GDD), and seizures. We sought the genetic cause of PCH in two siblings.… read more here.
Keywords: cause pontocerebellar; med29 variants; pontocerebellar hypoplasia; variants cause ... See more keywords