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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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Pediatric Endocrinology and Diabetes Society
2019-06-01
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| Serier: | JCRPE |
| Fag: | |
| Online adgang: |
http://www.jcrpe.org/archives/archive-detail/article-preview/novel-compound-heterozygous-variants-in-the-ilhcgr/19934
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