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The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are clinically and genetically heterogeneous disorders caused by a deficiency of gonadotrophin-releasing hormone (GnRH). Mutations in three genes—KAL1, GNRHR and FGFR1—account for 15–20% of all causes of IHH/KS. Nearly all mut...
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| Glavni autori: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Oxford University Press
2008
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2434956/ https://ncbi.nlm.nih.gov/pubmed/18463157 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/molehr/gan027 |
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