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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Mayorga, Julio, Zariñán, Teresa, Jardón-Valadez, Eduardo, Gutiérrez-Sagal, Rubén, Reiter, Eric, Cravioto, Ma. del Carmen, Ulloa-Aguirre, Alfredo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Endocrine Society 2019
Gaiak:
Reproductive Endocrinology
Sarrera elektronikoa: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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