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Article

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

European journal of medical genetics - 1 Sept 2016

Rocha Helena, Sampaio Mafalda, Rocha Ruben, Fernandes Susana, Leão Miguel

Abstract excerpt

INTRODUCTION: MEF2C haploinsufficiency syndrome is characterized by severe intellectual disability, epilepsy, stereotypic movements, minor dysmorphisms and brain abnormalities. We report the case of a patient with a new MEF2C mutation, comparing his clinical and imaging features to those previously reported in the literature. CASE REPORT: A 10 year-old boy first came to pediatric neurology clinic at the age of 11...

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Identifiers

PMID: 27255693
DOI: 10.1016/j.ejmg.2016.05.017

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