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Go Hun Seo, Arum Oh, Minji Kang, Eun Na Kim, Ja-Hyun Jang, Dae Yeon Kim, Kyung Mo Kim, Han-Wook Yoo, and Beom Hee Lee* Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Genome Research Center, Green Cross Genome, Yongin, Korea, Department of Pediatric Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Case Report

An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome