Research Question: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea?
Design: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted.
Results: A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified.
Conclusions: The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.
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| http://dx.doi.org/10.1016/j.rbmo.2022.05.003 | DOI Listing |
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