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A novel PPRC1 point mutation in a Chinese family with premature ovarian failure: A case study.
J Gene Med
June 2021
Obstertric and Gynecologic Hospital, Fudan University, Shanghai, China.
Background: Patients with premature ovarian failure (POF) have an at least 6-month history of amenorrhea and elevated follicle-stimulating hormone levels in plasma. Most of the POF causes are idiopathic and hereditary, and chromosomal abnormalities have been associated with POF development. A pedigree study was performed on a family with idiopathic POF to observe the possible link between gene mutation and POF development.
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