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New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family.

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第一作者： Nouha,Bouali

第一单位： Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. Electronic address: nouha_bmail@yahoo.fr.

作者： Nouha,Bouali ^[1] ; Bruno,Francou ^[2] ; Jérôme,Bouligand ^[2] ; Dilek,Imanci ^[3] ; Sarra,Dimassi ^[4] ; Lucie,Tosca ^[5] ; Monia,Zaouali ^[6] ; Soumaya,Mougou ^[4] ; Jacques,Young ^[7] ; Ali,Saad ^[4] ; Anne,Guiochon-Mantel ^[2]

作者单位： Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. Electronic address: nouha_bmail@yahoo.fr. ^[1] Inserm UMRS_1185, Faculté de Médecine Paris Sud, Université Paris-Sud, Université Paris Saclay, Le Kremlin-Bicêtre, France; Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, Assistance publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France. ^[2] Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, Assistance publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France. ^[3] Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. ^[4] Service d'Histologie, Embryologie et Cytogénétique, Hôpital Antoine-Béclère, Clamart, France. ^[5] Department of Physiology and Functional Exploration, Farhat Hached University Hospital, Sousse, Tunisia. ^[6] Inserm UMRS_1185, Faculté de Médecine Paris Sud, Université Paris-Sud, Université Paris Saclay, Le Kremlin-Bicêtre, France; Service d'Endocrinologie et des maladies de la Reproduction, Hôpital Bicêtre, Assistance publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France. ^[7]

关键词 GDF9 MCM8 NOBOX next-generation sequencing (NGS)primary ovarian insufficiency (POI)