Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families - Rouen, Alexandre; Rogers, Eli; Kerlan, Véronique; Delemer, Brigitte; Catteau-Jonard, Sophie; Reznik, Yves; Gompel, Anne; Cedrin, Isabelle; Guedj, Anne-Marie; Grouthier, Virginie; Brue, Thierry; Pienkowski, Catherine; et al. (Fertility and sterility, 2022)
Keywords: Cohort Studies; Cross-Sectional Studies; Exome Sequencing; Female; Fragile X Mental Retardation Protein - genetics; Genes in POI; Humans; hypergonadotropic hypogonadism; Life Sciences; Menopause, Premature - genetics; premature ovarian insufficiency; primary amenorrhea; Primary Ovarian Insufficiency - diagnosis; Primary Ovarian Insufficiency - genetics; whole exome sequencing; primary amenorrhea; premature ovarian insufficiency; hypergonadotropic hypogonadism; Genes in POI; whole exome sequencing