首页> Clinica chimica acta; international journal of clinical chemistry> Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.

Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.

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第一作者： Boudour,Khabou

第一单位： Higher Institute of Biotechnology of Beja, University of Jendouba, Avenue Habib Bourguiba, BP, 382, Beja 9000, Tunisia; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Tunisia. Electronic address: khabou.boudour@isbb.u-jendouba.tn.

作者： Boudour,Khabou ^[1] ; Manel,Guirat ^[2] ; Manel,Hsairi ^[3] ; Lamia,Gargouri ^[3] ; Slim,Charfi ^[4] ; Mohamed Hadj,Kacem ^[5] ; Tahia,Boudawara ^[4] ; Hassen,Kammoun ^[6] ; Faiza,Fakhfakh ^[7] ; Hassen Hadj,Kacem ^[8]

作者单位： Higher Institute of Biotechnology of Beja, University of Jendouba, Avenue Habib Bourguiba, BP, 382, Beja 9000, Tunisia; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Tunisia. Electronic address: khabou.boudour@isbb.u-jendouba.tn. ^[1] Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Biotechnology Center of Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia. ^[2] Department of Pediatrics, Pediatric Emergency and Intensive Care, Hedi Chaker Hospital, Faculty of Medicine, Sfax, Tunisia. ^[3] Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia. ^[4] Ribosite Biotechnology Company, Sfax, Tunisia. ^[5] Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia. ^[6] Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Tunisia. ^[7] Department of Applied Biology, College of Sciences, University of Sharjah, United Arab Emirates. Electronic address: hkacem@sharjah.ac.ae. ^[8]

关键词 Genetic diagnosis Modifier genes Pediatric cholestasis Unusual WD WES