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Article

Pontocerebellar hypoplasia.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2014

Rudnik-Schöneborn Sabine, Barth Peter G, Zerres Klaus

Abstract excerpt

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...

Topics

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24924738
DOI: 10.1002/ajmg.c.31403

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