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CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.
Hara-Isono, Kaori; Yamazawa, Kazuki; Tanaka, Satsuki; Nishi, Eriko; Fukami, Maki; Kagami, Masayo.
Afiliação
  • Hara-Isono K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Yamazawa K; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Tanaka S; Medical Genetics Center, National Hospital Organisation Tokyo Medical Center, Tokyo, Japan.
  • Nishi E; Department of Diabetes and Endocrinology, Osaka Saiseikai Nakatsu Hospital, Osaka, Japan.
  • Fukami M; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
  • Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
J Med Genet ; 59(12): 1241-1246, 2022 12.
Article em En | MEDLINE | ID: mdl-35906012
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell / RNA Longo não Codificante Limite: Child, preschool / Female / Humans / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell / RNA Longo não Codificante Limite: Child, preschool / Female / Humans / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article