The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report

Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly...

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Detalles Bibliográficos
Autores principales: Cattoni, Alessandro, Spano, Alice, Tulone, Anna, Boneschi, Annalisa, Masera, Nicoletta, Maitz, Silvia, Di Blasio, Anna Maria, Persani, Luca, Guizzardi, Fabiana, Rossetti, Raffaella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545356/
https://www.ncbi.nlm.nih.gov/pubmed/33101191
http://dx.doi.org/10.3389/fendo.2020.540683

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