Fragile X-associated primary ovarian insufficiency is a poorly understood cause of infertility and ovarian insufficiency. Studies to date in humans have been limited for the most part to studies of the epidemiology and natural history of the condition in women. However, related Repeat Expansion Diseases as well as cell and animal model systems are beginning to provide vital insights into the mechanisms that might be responsible for disease pathology.

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doi.org/10.1007/978-3-319-33898-9_11, hdl.handle.net/1765/99803
Erasmus MC: University Medical Center Rotterdam

Usdin, K., Hukema, R., & Sherman, S. L. (2016). Model systems for understanding FXPOI. In FXTAS, FXPOI, and Other Premutation Disorders (pp. 225–240). doi:10.1007/978-3-319-33898-9_11