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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-04-2021
Symbol POF17
Location 7q36.1
Name premature ovarian failure 17
Corresponding gene XRCC2
Main clinical features
  • characterized by early cessation of menses after initial menarche, with small ovaries and uterus
  • associated with low estradiol and elevated levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH)
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease