A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 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: Mellone, Simona, Zavattaro, Marco, Vurchio, Denise, Ronzani, Sara, Caputo, Marina, Leone, Ilaria, Prodam, Flavia, Giordano, Mara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8622734/
https://www.ncbi.nlm.nih.gov/pubmed/34828315
http://dx.doi.org/10.3390/genes12111709

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