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Oculofaciocardiodental syndrome caused by a novel BCOR variant.
Yamashita, Tomoyo; Hotta, Junko; Jogu, Yukiko; Sakai, Eri; Ono, Chie; Bamba, Haruka; Suzuki, Hisato; Yamada, Mamiko; Takenouchi, Toshiki; Kosaki, Kenjiro; Yorifuji, Tohru; Hamazaki, Takashi; Seto, Toshiyuki.
Affiliation
  • Yamashita T; Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Hotta J; Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Jogu Y; Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Sakai E; Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Ono C; Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Bamba H; Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Suzuki H; Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Yamada M; Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Takenouchi T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Yorifuji T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Hamazaki T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Seto T; Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Hum Genome Var ; 10(1): 18, 2023 Jun 12.
Article in En | MEDLINE | ID: mdl-37308473
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Hum Genome Var Year: 2023 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Hum Genome Var Year: 2023 Document type: Article Affiliation country: Country of publication: