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A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report

RATIONALE: Central precocious puberty (CPP) is caused by the premature activation of the hypothalamic-pituitary-gonadal axis. Recently, the makorin ring finger protein 3 (MKRN3) mutations represent the most common genetic defects associated with CPP. However, the MKRN3 mutation is relatively rare in...

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Detalles Bibliográficos
Autores principales: Liu, Meijuan, Fan, Lijun, Gong, Chun Xiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7505322/
https://www.ncbi.nlm.nih.gov/pubmed/32957387
http://dx.doi.org/10.1097/MD.0000000000022295