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The first Japanese case of central precocious puberty with a novel MKRN3 mutation.
Nishioka, Junko; Shima, Hirohito; Fukami, Maki; Yatsuga, Shuichi; Matsumoto, Takako; Ushijima, Kikumi; Kitamura, Miyuki; Koga, Yasutoshi.
Afiliação
  • Nishioka J; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Shima H; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Yatsuga S; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Matsumoto T; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Ushijima K; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Kitamura M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Koga Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Hum Genome Var ; 4: 17017, 2017.
Article em En | MEDLINE | ID: mdl-28546864
MKRN3, located on chromosome 15q11.2, encodes makorin ring-finger 3, which is an upstream suppressor of the hypothalamic-pituitary-gonadal axis. Mutation of this gene induces central precocious puberty (CPP). As MKRN3 is maternally imprinted, only the paternal allele is expressed. This is the first report of an 8-year-old Japanese girl with CPP caused by a novel frameshift mutation in MKRN3 (p.Glu229Argfs*3).
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article