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., ...Daha Fazla

BRAIN & DEVELOPMENT, cilt.38, sa.1, ss.124-127, 2016 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 1
Basım Tarihi: 2016
Doi Numarası: 10.1016/j.braindev.2015.06.004
Dergi Adı: BRAIN & DEVELOPMENT
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.124-127
Anahtar Kelimeler: Periventricular heterotopia, Putaminal hyperintensity, Movement disorder, Cardiomyopathy
Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.