A Long Contiguous Stretch of Homozygosity Disclosed a Novel <i>STAG3</i> Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature

A Long Contiguous Stretch of Homozygosity Disclosed a Novel <i>STAG3</i> Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature

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 of age. Most cases are apparently sporadic, but about 10–15% have an affected first-degree relati...

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Detalles Bibliográficos
Autores principales: Simona Mellone, Marco Zavattaro, Denise Vurchio, Sara Ronzani, Marina Caputo, Ilaria Leone, Flavia Prodam, Mara Giordano
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
<i>STAG3</i>
primary ovarian insufficiency
exome sequencing
LCSH
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/c57a9338742d4f5cafea1e3d32d60a7a
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