Authors: Demain LAM; Metcalfe K; Boetje E; E et al.
Source: Reproductive biomedicine online [Reprod Biomed Online] 2022 May 13. Date of Electronic Publication: 2022 May 13.
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.
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