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

Yilmaz, Sanem; GÖKBEN, SARENUR; Serdaroglu, Gul; ERASLAN, CENK; Mancini, Grazia; Tekin, Hande; TEKGÜL, HASAN

doi:10.1016/j.braindev.2015.06.004

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

Yilmaz S., GÖKBEN S., Serdaroglu G., ERASLAN C., Mancini G. M. S., Tekin H., ...More

BRAIN & DEVELOPMENT, vol.38, no.1, pp.124-127, 2016 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 38 Issue: 1
Publication Date: 2016
Doi Number: 10.1016/j.braindev.2015.06.004
Journal Name: BRAIN & DEVELOPMENT
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.124-127
Keywords: Periventricular heterotopia, Putaminal hyperintensity, Movement disorder, Cardiomyopathy
Dokuz Eylül University Affiliated: No

Abstract

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.