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

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

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. Methods We sequenced a cohort of...

Full description

Bibliographic Details
Main Authors: Sandro Michelini, Maurizio Ricci, Roberta Serrani, Shila Barati, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Syed Hussain Basha, Sasi Priya, Astrit Dautaj, Munis Dundar, Juraj Krajcovic, Matteo Bertelli
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
genetic diagnosis
lymphedema
Next Generation Sequencing (NGS)
NOTCH1
Online Access:https://doi.org/10.1002/mgg3.1529

Internet

https://doi.org/10.1002/mgg3.1529

Similar Items