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Article

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.

Brain & development - 1 Jan 2016

Yilmaz Sanem, Gokben Sarenur, Serdaroglu Gul, Eraslan Cenk, Mancini Grazia M S, Tekin Hande, Tekgul Hasan

Abstract excerpt

Mutations in ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) gene was recently recognized to cause bilateral periventricular nodular heterotopia, putaminal hyperintensity and movement disorder. A ten year-old girl with severe developmental and growth delay, feeding problems and involuntary movements is presented. Bilateral periventricular nodular heterotopia and putaminal hyperintensity...

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Source

Identifiers

PMID: 26126837
DOI: 10.1016/j.braindev.2015.06.004

Genes

ARFGEF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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