Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377188/
https://www.ncbi.nlm.nih.gov/pubmed/37509153
http://dx.doi.org/10.3390/biom13071117

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