Alessandro Cattoni Alice Spano Anna Tulone Annalisa Boneschi Nicoletta Masera Silvia Maitz Anna Maria Di Blasio Luca Persani Fabiana Guizzardi Raffaella Rossetti
10.3389/fendo.2020.540683
Front Endocrinol (Lausanne)
2020 Sep 25;11:540683.
figla gene nobox gene nr5a1 gene antimullerian hormone (amh) fertility gene variants gonadal dysgenesis (gd) primary ovarian insufficiency (poi)
CC BY
https://pubmed.ncbi.nlm.nih.gov/33101191/
Genetic Diseases, X-Linked / genetics Genetic Diseases, X-Linked / pathology Gonadal Dysgenesis / genetics Gonadal Dysgenesis / pathology Primary Ovarian Insufficiency / genetics Primary Ovarian Insufficiency / pathology
Genetic Diseases, X-Linked / genetics Genetic Diseases, X-Linked / pathology Gonadal Dysgenesis / genetics Gonadal Dysgenesis / pathology Primary Ovarian Insufficiency / genetics Primary Ovarian Insufficiency / pathology Case Reports Research Support, Non-U.S. Gov't Adolescent Basic Helix-Loop-Helix Transcription Factors / genetics Female Genetic Diseases, X-Linked / complications Genetic Variation Gonadal Dysgenesis / complications Homeodomain Proteins / genetics Humans Primary Ovarian Insufficiency / complications Steroidogenic Factor 1 / genetics Transcription Factors / genetics Basic Helix-Loop-Helix Transcription Factors FIGLA protein, human Homeodomain Proteins NOBOX protein, human NR5A1 protein, human Steroidogenic Factor 1 Transcription Factors
PMC7545356
33101191
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report
2020