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

Köllges, Ricarda ; Stegmann, Jil ; Schneider, Sophia ; Waffenschmidt, Lea ; Fazaal, Julia ; Breuer, Katinka ; Hilger, Alina C. ; Dworschak, Gabriel C. ; Mingardo, Enrico ; Rösch, Wolfgang ; Hofmann, Aybike ; Neissner, Claudia ; Ebert, Anne-Karolin ; Stein, Raimund ; Younsi, Nina ; Hirsch-Koch, Karin ; Schmiedeke, Eberhard ; Zwink, Nadine ; Jenetzky, Ekkehart ; Thiele, Holger ; Ludwig, Kerstin U. ; Reutter, Heiko



Abstract

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 analysis of case-parent trios with cloacal exstrophy (CE), the most severe form of the BEEC. Furthermore, ...

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