Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
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 combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. PCH9 is caused by biallelic variants in AMPD2 encoding...
Paper Details
Title
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Published Date
Feb 20, 2018
Volume
26
Issue
5
Pages
695 - 708
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