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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Nishioka, Junko, Shima, Hirohito, Fukami, Maki, Yatsuga, Shuichi, Matsumoto, Takako, Ushijima, Kikumi, Kitamura, Miyuki, Koga, Yasutoshi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5435957/
https://ncbi.nlm.nih.gov/pubmed/28546864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.17
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados