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


Gunes N., YEŞİL G. , Geyik F., Kasap B., Celkan T., Kebudi R., ...More

ANNALS OF HUMAN GENETICS, 2021 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2021
  • Doi Number: 10.1111/ahg.12422
  • Title of Journal : ANNALS OF HUMAN GENETICS

Abstract

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