Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
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DOI: 10.1038/s41431-018-0098-2
Abstract: Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique… read more here.
Keywords: spectrum; ampd2 related; type; pontocerebellar hypoplasia ... See more keywords