The Spectrum of NF1 Gene Variations in Southeastern Turkey

Kırat E., Mutlu Albayrak H.

JOURNAL OF PEDIATRIC RESEARCH, vol.8, no.3, pp.236-296, 2021 (ESCI, TRDizin) identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.4274/jpr.galenos.2021.03379
  • Journal Name: JOURNAL OF PEDIATRIC RESEARCH
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.236-296
  • Keywords: NF1, next-generation sequencing, Southeastern Turkey, NEUROFIBROMATOSIS TYPE-1, PHENOTYPE, GENOTYPE, MUTATIONS, PREVALENCE, CHILDREN, SEQUENCE
  • Ankara University Affiliated: Yes

Abstract

Aim: We aimed to expand the variant spectrum of the NF1 gene in Southeastern Turkey. Neurofibromatosis type 1 (NF1) disease is an inherited skin disorder with variable severity and heterogeneous systemic involvement. The pathogenic variations of the NF1 gene are responsible for the NF1 phenotype.