What ’s new in pontocerebellar hypoplasia? An update on genes and subtypes

Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative disorders mainly with a prenatal onset. Patients have severe hypoplasia or atrophy of cerebellum and pons, with varia...

Source: Orphanet Journal of Rare Diseases - June 15, 2018 Category: Internal Medicine Authors: Tessa van Dijk, Frank Baas, Peter G. Barth and Bwee Tien Poll-The Tags: Review Source Type: research