Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

202215 citationsReviewgold Open Access

Authors

Anna Junkiert-Czarnecka · Nicolaus Copernicus University

Maria Pilarska-Deltow · Nicolaus Copernicus University

Aneta Bąk · Nicolaus Copernicus University

Marta Heise · Nicolaus Copernicus University

Anna Latos‐Bieleńska · Poznan University of Medical Sciences

Jacek Zaremba · Institute of Psychiatry and Neurology

Alicja Bartoszewska-Kubiak

Abstract

Next-generation sequencing, with an appropriate multigene panel, showed great potential to assist in the diagnosis of EDS and other connective tissue disorders. Our data also show that not all causative genes giving rise to cEDS have been elucidated yet.

Topics & Keywords

Connective tissue disorders research Dermatological and Skeletal Disorders Wnt/β-catenin signaling in development and cancer

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Current Issues in Molecular Biology

Volume 44, Issue 4, pp. 1472-1478

DOI: 10.3390/cimb44040099

Field-Weighted Citation Impact: 2.26