A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea
Author:
Publisher
Informa UK Limited
Subject
Obstetrics and Gynaecology,Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://www.tandfonline.com/doi/pdf/10.1080/09513590802454927
Reference20 articles.
1. Mutations of Gonadotropins and Gonadotropin Receptors: Elucidating the Physiology and Pathophysiology of Pituitary-Gonadal Function
2. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
3. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
4. New Natural Inactivating Mutations of the Follicle-Stimulating Hormone Receptor: Correlations between Receptor Function and Phenotype
5. A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics
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1. Restoring function to inactivating G protein‐coupled receptor variants in the hypothalamic–pituitary–gonadal axis1;Journal of Neuroendocrinology;2024-06-09
2. The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea;Annals of Pediatric Endocrinology & Metabolism;2023-03-31
3. Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome;Frontiers in Endocrinology;2023-01-10
4. Resistant ovary syndrome: Pathogenesis and management strategies;Frontiers in Medicine;2022-10-19
5. The programmed death of fetal oocytes and the correlated surveillance mechanisms;Reproductive and Developmental Medicine;2022-09
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