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New <i>ZNHIT3</i> Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.

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第一作者： Md Lutfur,Rahman

第一单位： Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia, USA.

作者： Md Lutfur,Rahman ^[1] ; Adeline A,Bonnard ^[2] ; Feng,Wang ^[3] ; Lyse,Ruaud ^[4] ; Fabien,Guimiot ^[4] ; Yangping,Li ^[3] ; Ines,Defer ^[2] ; Yilin,Wang ^[3] ; Virginie,Marchand ^[5] ; Yuri,Motorin ^[6] ; Bing,Yao ^[3] ; Séverine,Drunat ^[4] ; Homa,Ghalei ^[1]

作者单位： Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia, USA. ^[1] Département de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.;INSERM UMR 1131, Saint-Louis Research Institute, Paris University, Paris, France. ^[2] Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA. ^[3] Département de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.;INSERM UMR 1141, Paris-Cité University, NeuroDiderot, Paris, France. ^[4] Université de Lorraine, SMP IBSLor, Biopôle, 9 Avenue de la Forêt de Haye, Vandoeuvre-les-Nancy, France. ^[5] Université de Lorraine, UMR7365 IMoPA, CNRS, Biopôle, 9 Avenue de la Forêt de Haye, Vandoeuvre-les-Nancy, France. ^[6]

关键词 Intrauterine fetal loss PEHO syndrome developmental disorder fetal hydrops snoRNP biogenesis translation

DOI 10.1101/2024.08.26.24312490

PMID 39252897

发布时间 2024-10-23

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New <i>ZNHIT3</i> Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.

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New <i>ZNHIT3</i> Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.

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