Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients


Gunes N., Yesil G. , Geyik F. , Kasap B., Celkan T. , Kebudi R. , ...Daha Fazla

ANNALS OF HUMAN GENETICS, 2021 (SCI İndekslerine Giren Dergi) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1111/ahg.12422
  • Dergi Adı: ANNALS OF HUMAN GENETICS

Özet

Objective To investigate the variant spectrum and genotype-phenotype correlations in a Turkish cohort with Neurofibromatosis Type-1 (NF1).