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Article

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Journal of medical genetics - 1 Sept 2015

Rajab Anna, Schuelke Markus, Gill Esther, Zwirner Angelika, Seifert Franziska, Morales Gonzalez Susanne, Knierim Ellen

Abstract excerpt

BACKGROUND: Various genetic defects cause autism associated with intellectual disability and epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family with three affected children in whom mutations in known candidate genes had been excluded beforehand. METHODS: For mutation screening, we combined autozygosity mapping and whole exome sequencing. Segregation of potential disease...

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Identifiers

PMID: 26048982
DOI: 10.1136/jmedgenet-2015-103083

Genes

DEAF1

Provenance

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