Article

A Long contiguous stretches of homozygosity disclosed a novel biallelic pathogenic variant in STAG3 causing Primary Ovarian Insufficiency

2021-04-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Primary ovarian insufficiency (POI) refers to an etiologically heterogeneous disorder characterized by hypergonadotropic hypogonadism that represents a major cause of infertility in women under 40 years. Most cases of isolated POI still appear sporadically, but ∼10–15% have an affected first-degree relative, indicating a significant genetic etiology. Several gen...

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Literature Corpus work: c72f816a-cba8-5667-9201-7ae09c4a513d
DOI: 10.21203/rs.3.rs-447879/v1

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