Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.
Emily Graves AllenKrista CharenHeather S HippLisa ShubeckAshima AminWeiya HeSarah L NolinAnne GlicksmanNicole TortoraBonnie McKinnonKatharine E ShellyStephanie L ShermanPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
Using a large cross-section study on 1,668 women, we have provided more personalized risk assessment for FXPOI using high-resolution repeat size bins. Understanding the variability in risk has important implications for family planning and overall health among women with a premutation.