Article
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
European journal of human genetics : EJHG - 1 May 2018
Kortüm Fanny, Jamra Rami Abou, Alawi Malik, Berry Susan A, Borck Guntram, Helbig Katherine L, Tang Sha, Huhle Dagmar, Korenke Georg Christoph, Hebbar Malavika, Shukla Anju, Girisha Katta M, Steinlin Maja, Waldmeier-Wilhelm Sandra, Montomoli Martino, Guerrini Renzo, Lemke Johannes R, Kutsche Kerstin
Abstract excerpt
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...
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