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A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor (GNRHR) presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia
CONTEXT: The GnRH receptor plays a central role in regulating gonadotropin synthesis and release, and several mutations in the GNRHR gene have been reported in patients with idiopathic or familial forms of isolated hypogonadotropic hypogonadism (IHH). OBJECTIVE: To investigate whether partial loss o...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1865483/ https://ncbi.nlm.nih.gov/pubmed/16968799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2006-0807 |
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