NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants


Michelini S., Ricci M., Serrani R., Barati S., Kenanoglu S., Veselenyiova D., ...More

MOLECULAR GENETICS & GENOMIC MEDICINE, vol.9, no.1, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 9 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1002/mgg3.1529
  • Journal Name: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
  • Keywords: genetic diagnosis, lymphedema, Next Generation Sequencing (NGS), NOTCH1
  • Erciyes University Affiliated: Yes

Abstract

Background: We developed a Next-Generation-Sequencing (NGS) protocol to screen the most frequent genetic variants related to lymphedema and a group of candidate genes. The aim of the study was to find the genetic cause of lymphedema in the analyzed patients.