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Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3 Respectively Cause Idiopathic Hypogonadotropic Hypogonadism
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetic condition characterized by absent puberty and infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal (normosmic IHH, nIHH) or compromised olfaction (Kallmann syndrome, KS). Several semapho...
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| Udgivet i: | Genet Med |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2021
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7612467/ https://ncbi.nlm.nih.gov/pubmed/33495532 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01087-5 |
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