Pontocerebellar hypoplasia

descriptionPublicationkeyboard_double_arrow_right Article 01 Jun 2014 English Publisher:WileyJournal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics, volume 166, pages 173-183 (issn: 1552-4868, eissn: 1552-4876,

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Authors: Sabine, Rudnik-Schöneborn; Peter G, Barth; Klaus, Zerres;

doi: 10.1002/ajmg.c.31403

pmid: 24924738

Pontocerebellar hypoplasia

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Abstract

Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes. In this review we will address the clinical picture, neuroradiological, pathoanatomic, and genetic findings in the currently known PCH subtypes. © 2014 Wiley Periodicals, Inc.

Keywords

Diagnosis, Differential, Phenotype, Cerebellar Diseases, Cerebellum, Humans, Neuroimaging, Magnetic Resonance Imaging

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