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, vol.85, pp.155-165, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 85
  • Publication Date: 2021
  • Doi Number: 10.1111/ahg.12422
  • Journal Name: ANNALS OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, International Bibliography of Social Sciences, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, zbMATH
  • Page Numbers: pp.155-165
  • Bezmialem Vakıf University Affiliated: Yes

Abstract

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