The Spectrum of NF1 Gene Variations in Southeastern Turkey

Kırat E., Mutlu Albayrak H.

JOURNAL OF PEDIATRIC RESEARCH, cilt.8, sa.3, ss.236-296, 2021 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/jpr.galenos.2021.03379
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.236-296
  • Anahtar Kelimeler: NF1, next-generation sequencing, Southeastern Turkey, NEUROFIBROMATOSIS TYPE-1, PHENOTYPE, GENOTYPE, MUTATIONS, PREVALENCE, CHILDREN, SEQUENCE
  • Ankara Üniversitesi Adresli: Evet

Özet

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.