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OR08-4 A Novel Mutation in the Follicle-Stimulating Hormone Receptor (Ile423Thr) in a Woman with Normal Pubertal Development and Primary Amenorrhea: In Vivo, In Vitro, and In Silico Studies
Women with inactivating mutations in the FSHR may exhibit an array of phenotypes, from lack of pubertal development, primary amenorrhea, and complete insensitivity to FSH, to secondary amenorrhea and premature ovarian failure. In contrast to the LHCGR, only 19 inactivating mutations in the FSHR have...
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| Udgivet i: | J Endocr Soc |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Endocrine Society
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6555079/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR08-4 |
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