Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.

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第一作者： Shabnam,Bakhshalizadeh

第一单位： Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

作者： Shabnam,Bakhshalizadeh ^[1] ; Fateme,Afkhami ^[2] ; Katrina M,Bell ^[3] ; Gorjana,Robevska ^[4] ; Jocelyn,van den Bergen ^[4] ; Sara,Cronin ^[5] ; Sylvie,Jaillard ^[6] ; Katie L,Ayers ^[1] ; Pramod,Kumar ^[7] ; Christian,Siebold ^[7] ; Zhangping,Xiao ^[8] ; Edward W,Tate ^[8] ; Shahla,Danaei ^[9] ; Laya,Farzadi ^[9] ; Shirin,Shahbazi ^[2] ; Andrew H,Sinclair ^[1] ; Elena J,Tucker ^[10]

作者单位： Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. ^[1] Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. ^[2] Department of Bioinformatics, Murdoch Children's Research Institute, Melbourne, Australia. ^[3] Murdoch Children's Research Institute, Melbourne, Australia. ^[4] Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, 3052, Victoria, Australia. ^[5] Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail), UMR_S 1085, F-35000, Rennes, France; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France. ^[6] Division of Structural Biology, Wellcome Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. ^[7] Department of Chemistry, Imperial College London, 82 Wood Lane, London, W12 0BZ, UK. ^[8] Department of Obstetrics and Gynecology, Tabriz University of Medical Sciences, Tabriz, Iran. ^[9] Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: elena.tucker@mcri.edu.au. ^[10]

关键词 Amenorrhea Infertility Premature ovarian insufficiency Whole exome sequencing