TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.

Maraş-Genç H., Uyur-Yalçın E., Rosti R., Gleeson J., Kara B.

The Turkish journal of pediatrics, vol.57, pp.286-9, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57
  • Publication Date: 2015
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.286-9
  • Keywords: pontocerebellar hypoplasia, TSEN54 gene, hyperekplexia, startle disease
  • Kocaeli University Affiliated: Yes