A Novel Loss-of-Function MKRN3 Variant in a Chinese Patient With Familial Precocious Puberty: A Case Report and Functional Study

Background: Central precocious puberty (CPP) is one of the most common and complex problems in clinical pediatric endocrinology practice. Mutation of the MKRN3 gene can cause familial CPP. Methods and Results: Here we reported a Chinese patient bearing a novel MKRN3 mutation (c.G277A/p.Gly93Ser) and...

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Detalles Bibliográficos
Autores principales: Yin, Xueling, Wang, Junqi, Han, Tianting, Tingting, Zhang, Li, Yuhong, Dong, Zhiya, Wang, Wei, Li, Chuanyin, Lu, Wenli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378174/
https://www.ncbi.nlm.nih.gov/pubmed/34421985
http://dx.doi.org/10.3389/fgene.2021.663746

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378174/
https://www.ncbi.nlm.nih.gov/pubmed/34421985
http://dx.doi.org/10.3389/fgene.2021.663746

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