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Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Tamura, Mayuko; Isojima, Tsuyoshi; Kasama, Takeshi; Mafune, Ryo; Shimoda, Konomi; Yasudo, Hiroki; Tanaka, Hiroyuki; Takahashi, Chie; Oka, Akira; Kitanaka, Sachiko.
Afiliação
  • Tamura M; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Isojima T; Japan Society for the Promotion of Science, Tokyo, Japan.
  • Kasama T; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Mafune R; Research Center for Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Japan.
  • Shimoda K; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Yasudo H; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Tanaka H; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Takahashi C; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Oka A; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Kitanaka S; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Hum Genome Var ; 4: 17015, 2017.
Article em En | MEDLINE | ID: mdl-28503313
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article