The first Japanese case of central precocious puberty with a novel MKRN3 mutation

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...

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Detalles Bibliográficos
Autores principales: Nishioka, Junko, Shima, Hirohito, Fukami, Maki, Yatsuga, Shuichi, Matsumoto, Takako, Ushijima, Kikumi, Kitamura, Miyuki, Koga, Yasutoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435957/
https://www.ncbi.nlm.nih.gov/pubmed/28546864
http://dx.doi.org/10.1038/hgv.2017.17

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