Trio Exome Sequencing in VACTERL Association

Trio Exome Sequencing in VACTERL Association

Introduction: Currently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association. The aim of this study was to extend the spectrum of di...

Full description

Saved in:
Bibliographic Details
Main Authors: Jasmina Ćomić, Erik Tilch, Korbinian M. Riedhammer, Melanie Brugger, Theresa Brunet, Katharina Eyring, Katharina Vill, Silke Redler, Velibor Tasic, Eberhard Schmiedeke, Frank-Mattias Schäfer, Nora Abazi-Emini, Ekkehart Jenetzky, Nicole Schwarzer, Anke Widenmann, Martin Lacher, Michael Zech, Sabine Grasshoff-Derr, Michaela Geßner, Carmen Kabs, Barbara Seitz, Andreas C. Heydweiller, Oliver Muensterer, Bärbel Lange-Sperandio, Udo Rolle, Johannes Schumacher, Matthias C. Braunisch, Riccardo Berutti, Heiko Reutter, Julia Hoefele
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Kidney International Reports
Subjects:
burden test
exome sequencing
mitochondriopathy
VACTERL association
VACTERL-like phenotype
ZNF417
Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924034053
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S2468024924034053

Similar Items