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Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
Ushijima, Kikumi; Ogawa, Yuya; Terao, Miho; Asakura, Yumi; Muroya, Koji; Hayashi, Mie; Ishii, Tomohiro; Hasegawa, Tomonobu; Sekido, Ryohei; Fukami, Maki; Takada, Shuji; Narumi, Satoshi.
Afiliação
  • Ushijima K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ogawa Y; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Terao M; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Asakura Y; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama city, Japan.
  • Muroya K; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama city, Japan.
  • Hayashi M; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Ishii T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Sekido R; Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Takada S; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Am J Med Genet A ; 185(4): 1067-1075, 2021 04.
Article em En | MEDLINE | ID: mdl-33399274
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ovário / Transtornos Ovotesticulares do Desenvolvimento Sexual / Fatores de Transcrição SOX9 / Transtornos 46, XX do Desenvolvimento Sexual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Animals / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ovário / Transtornos Ovotesticulares do Desenvolvimento Sexual / Fatores de Transcrição SOX9 / Transtornos 46, XX do Desenvolvimento Sexual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Animals / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article