A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder, resulting from impaired production, secretion, or action of gonadotropin-releasing hormone (GnRH). Variants of the KISS1R gene can result in CHH. Herein we describe a Chinese boy with CHH, caused by a novel, compound heterozy...
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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Pediatric Endocrinology and Diabetes Society
2024-03-01
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| Colección: | JCRPE |
| Materias: | |
| Acceso en línea: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-28199 |
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