Pontocerebellar hypoplasia

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.

Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2014 Category: Genetics & Stem Cells Authors: Sabine Rudnik‐Schöneborn, Peter G. Barth, Klaus Zerres Tags: Research Article Source Type: research