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| Hum Reprod 31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23.
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| 2 | AIS, ODG1
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| A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
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| A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor.
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| Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.
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| 6 | FSHR, ODG1
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| Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.
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| 7 | FSHR, ODG1
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| Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.
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