Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates <i>LZTR1</i> in Disease Formation

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates <i>LZTR1</i> in Disease Formation

Background: The bladder exstrophy-epispadias complex (BEEC) is a spectrum of congenital abnormalities that involves the abdominal wall, the bony pelvis, the urinary tract, the external genitalia, and, in severe cases, the gastrointestinal tract as well. Methods: Herein, we performed an exome analysi...

Full description

Bibliographic Details
Main Authors: Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Biomolecules
Subjects:
exome analysis
molecular inversion probe
exstrophy
cloacal exstrophy
Online Access:https://www.mdpi.com/2218-273X/13/7/1117

Similar Items

Similar Items