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Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Autor: Ramadesikan S; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Colwell CM; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Supinger R; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Hunter J; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Thomas J; Department of Pediatric Colorectal & Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Varga E; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA., Mardis ER; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Wood RJ; Department of Pediatric Colorectal & Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.; Department of Surgery, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA., Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA; Daniel.Koboldt@nationwidechildrens.org.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio 43210, USA.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2024 Jan 10; Vol. 9 (4). Date of Electronic Publication: 2024 Jan 10 (Print Publication: 2023).