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In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder.

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第一作者： Agnese,Feresin

第一单位： Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.;SoFFoet, Société Française de Fœtopathologie, 75015 Paris, France.

作者： Agnese,Feresin ^[1] ; Mathilde,Lefebvre ^[2] ; Emilie,Sjøstrøm ^[3] ; Caterina,Zanus ^[4] ; Elisa,Paccagnella ^[4] ; Irene,Bruno ^[4] ; Erica,Valencic ^[4] ; Anna,Morgan ^[4] ; Alberto,Tommasini ^[5] ; Christel,Thauvin ^[6] ; Allan,Bayat ^[7] ; Giorgia,Girotto ^[5] ; Luciana,Musante ^[4]

作者单位： Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.;SoFFoet, Société Française de Fœtopathologie, 75015 Paris, France. ^[1] SoFFoet, Société Française de Fœtopathologie, 75015 Paris, France.;UF de Foetopathologie, CHU d'Orléans, 45100 Orleans, France. ^[2] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, 4293 Dianalund, Denmark. ^[3] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy. ^[4] Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.;Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", 34137 Trieste, Italy. ^[5] Inserm-UB UMR 1231 GAD "Génétique des Anomalies du Développement", Fédération Hospitalo-Universitaire-TRANSLAD, 21000 Dijon, France. ^[6] Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, 4293 Dianalund, Denmark.;Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.;Department of Drug Design and Pharmacology, University of Copenhagen, 2100 Copenhagen, Denmark.;Department of Paediatrics, Danish Epilepsy Center, 4293 Dianalund, Denmark. ^[7]

关键词 17q12 genomic disorder GPIBD11 PIGW epilepsy fetus heart malformation

医学主题词人类(Humans);女(雌)性(Female);表型(Phenotype);染色体, 人, 17对(Chromosomes, Human, Pair 17);男(雄)性(Male);先天性糖基化病(Congenital Disorders of Glycosylation);婴儿(Infant);儿童, 学龄前(Child, Preschool);膜蛋白质类(Membrane Proteins);儿童(Child)

DOI 10.3390/biom14121626

PMID 39766333

发布时间 2026-04-06

基金项目

PNRR-MR1-2022-12376811/Next Generation EU

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In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder.

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In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder.

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