A case with Rubinstein–Taybi syndrome: A novel frameshift mutation in the CREBBP gene

Eser M., Eser M., Ayaz A., Ayaz A., Yeşil G., YEŞİL G.

Turkish Journal of Pediatrics, vol.59, no.5, pp.601-603, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.05.017
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.601-603
  • Keywords: Rubinstein-Taybi syndrome, CREBBP, c.2057dupC, EP300, CBP, HETEROGENEITY
  • Istanbul University Affiliated: No