Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

The LHCGR gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females and in fertility via its interaction with luteinizing hormone and chorionic gonadotropin. Inactive variants of the LHCGR gene cause Leydig cell hypoplasia...

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Detalles Bibliográficos
Autores principales: Yan, Mei, Dilihuma, Julaiti, Luo, Yanfei, Reyilanmu, Baoerhan, Shen, Yiping, Mireguli, Maimaiti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571543/
https://www.ncbi.nlm.nih.gov/pubmed/30444213
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571543/
https://www.ncbi.nlm.nih.gov/pubmed/30444213
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0197

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