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-论文-万方医学网

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

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作者： Rouen, Alexandre ^[1] ; Rogers, Eli ^[2] ; Kerlan, Veronique ^[3] ; Delemer, Brigitte ^[4] ; Catteau-Jonard, Sophie ^[5] ; Reznik, Yves ^[6] ; Gompel, Anne ^[7] ; Cedrin, Isabelle ^[8] ; Guedj, Anne-Marie ^[9] ; Grouthier, Virginie ^[10] ; Brue, Thierry ^[11] ; Pienkowski, Catherine ^[12] ; Bachelot, Anne ; Chantot-Bastaraud, Sandra ; Rousseau, Alexandra ; Simon, Tabassome ; Kott, Esther ; Siffroi, Jean-Pierre ; Touraine, Philippe ; Christin-Maitre, Sophie

作者单位： AP HP,Hop Armand Trousseau ^[1] Serv Endocrinol,CHU Brest ^[2] Serv Endocrinol,CHU Reims ^[3] Serv Endocrinol,Hop Caen ^[4] Hop Port Royal,Univ Paris ^[5] Serv Med Reprod,Hop Jean Verdier ^[6] Serv Endocrinol ^[7] AP HM,Hop Conception ^[8] Inst Marseille Malad Rares,Aix Marseille Univ ^[9] Serv Endocrinol P ediat,Hop Toulouse ^[10] Hop Pitie Salpetriere,Sorbonne Univ ^[11] AP HP,Hop St Antoine ^[12]

关键词 Genes in POI hypergonadotropic hypogonadism premature ovarian insufficiency primary amenorrhea whole exome sequencing CANDIDATE GENES RECOMBINATION GENETICS MUTATION FAILURE ATTACHMENT COHESIN RNF212 REGION REPAIR

发布时间 2022-08-25

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