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Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Cheon, Chong Kun; Sohn, Young Bae; Ko, Jung Min; Lee, Yeoun Joo; Song, Ji Sun; Moon, Jea Woo; Yang, Bo Kyoung; Ha, Il Soo; Bae, Eun Jung; Jin, Hyun-Seok; Jeong, Seon-Yong.
Affiliation
  • Cheon CK; 1] Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea [2] Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Y
  • Sohn YB; Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
  • Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
  • Lee YJ; Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea.
  • Song JS; 1] Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea [2] Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Y
  • Moon JW; Theragen BiO Institute (TBI), Suwon, South Korea.
  • Yang BK; Theragen BiO Institute (TBI), Suwon, South Korea.
  • Ha IS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
  • Bae EJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
  • Jin HS; Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
  • Jeong SY; Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
J Hum Genet ; 59(6): 321-5, 2014 Jun.
Article in En | MEDLINE | ID: mdl-24739679
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Nuclear Proteins / Vestibular Diseases / DNA-Binding Proteins / Face / Histone Demethylases / Exome / Hematologic Diseases / Neoplasm Proteins Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Year: 2014 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Nuclear Proteins / Vestibular Diseases / DNA-Binding Proteins / Face / Histone Demethylases / Exome / Hematologic Diseases / Neoplasm Proteins Type of study: Clinical_trials / Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Year: 2014 Type: Article