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Article

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion.

American journal of medical genetics. Part A - 1 Nov 2011

Gallant Natalie M, Baldwin Erin, Salamon Noriko, Dipple Katrina M, Quintero-Rivera Fabiola

Abstract excerpt

The pontocerebellar hypoplasias (PCHs) are a group of clinically variable disorders characterized by abnormally small cerebellum and brainstem, generally inherited in an autosomal recessive pattern. While PCHs have been grouped into six subtypes, clinical diagnosis is equivocal until a genetic diagnosis is established. We report a patient with PCH, intrauterine growth restriction, ventricular septal defect, rib...

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Identifiers

PMID: 21994138
DOI: 10.1002/ajmg.a.34286

Genes

RBFOX1

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