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Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome,a renal-hepatic-pancreatic dysplasia
Authors:Penelope Jordan  Christelle Arrondel  Bettina Bessières  Aude Tessier  Tania Attié-Bitach  Sarah Guterman  Vincent Morinière  Corinne Antignac  Sophie Saunier  Marie-Claire Gubler  Laurence Heidet
Affiliation:1. APHP, Génétique moléculaire, Hôpital universitaire Necker-Enfants malades, Paris, France;2. Laboratoire des Maladies rénales héréditaires, Institut Imagine, Inserm U1163, Université de Paris, Paris, France;3. APHP, Embryof?topathologie, Service d''Histologie-Embryologie-Cytogénétique, Hôpital universitaire Necker-Enfants malades, Paris, France;4. Université de Paris, Imagine Institute, Paris, France;5. APHP, Obstétrique et Médecine f?tale, Hôpital universitaire Necker-Enfants malades, Paris, France;6. APHP, Néphrologie pédiatrique, Centre de Référence MARHEA, Hôpital universitaire Necker-Enfants malades, Paris, France;1. Faculty of Medicine, University of Balamand, North Governorate, Lebanon;2. Division of Internal Medicine, Saint George Hospital University Medical Center, Beirut, Lebanon;3. Division of Radiology, Saint George Hospital University Medical Center, Beirut, Lebanon;4. Faculty of Medicine, Saint George University, Beirut, Lebanon;5. Division of Nephrology, Saint George Hospital University Medical Center, Beirut, Lebanon;1. Division of Nephrology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China;2. Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, USA;3. Division of Nephrology, Yonsei University Wonju College of Medicine, Wonju, Gangwon, South Korea;4. Division of Nephrology, Huashan Hospital, Wudan University, Shanghai, China;5. Division of Pediatric Nephrology, Vanderbilt University Medical Center, Nashville, Tennessee, USA;6. Institute of Medical Science, Tokai University, Isehara, Japan;7. Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA;8. Departments of Medicine, Cancer Biology, and Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA;9. Medicine and Research Services, Department of Veterans Affairs Hospital, Tennessee Valley Healthcare System, Nashville, Tennessee, USA;1. Department of Nephrology, Army Hospital (Research & Referral), New Delhi, India;2. Department of Laboratory Science & Molecular Medicine, Army Hospital (Research & Referral), New Delhi, India;3. Department of RadioDiagnosis, Army Hospital (Research & Referral), New Delhi, India;1. Division of Cardiovascular Sciences, University of Manchester, Manchester, UK;2. Renal Department, Manchester University Hospital, Manchester, UK;3. III. Medizinische Klinik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany;4. Institut für Pathologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany;1. Department of Nephrology and Renal Transplantation, Centre Hospitalier Universitaire, Université de Poitiers, Poitiers, France;2. Centre National de la Recherche Scientifique UMR 7276, Institut National de la Santé et de la Recherche Médicale UMR 1262, Contrôle de la réponse immune B et lymphoproliférations, Limoges, France;3. Department of Nephrology, Centre National de Reference “Amylose AL et autres maladies à dépôt d’immunoglobulines monoclonales,” Poitiers, France;4. Institut National de la Santé et de la Recherche Médicale CIC 1402, Centre Hospitalier Universitaire, Poitiers, France;5. Department of Nephrology, Centre Hospitalier Universitaire, Strasbourg, France;6. Department of Nephrology, Centre Hospitalier Général, Boulogne-sur-Mer, France;7. Department of Nephrology, Centre Hospitalier Général, Verdun, France;8. Department of Nephrology, Centre Hospitalier Universitaire, Clermont-Ferrand, France;9. Department of Nephrology, Centre Hospitalier Universitaire, Saint-Etienne, France;10. Department of Clinical Hematology, Centre Hospitalier Universitaire Lyon Sud, Hospices Civils de Lyon, Pierre-Benite, France;11. Department of Nephrology, Centre Hospitalier Universitaire Lyon Sud, Hospices Civils de Lyon, Pierre-Benite, France;12. Department of Pathology and Ultrastructural Pathology, Centre Hospitalier Universitaire, Poitiers, France;13. Department of Pathology, Centre Hospitalier Universitaire de Lille, Lille, France;14. Department of Immunology and Hematology, Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris, Paris, France;1. State Key Laboratory of Organ Failure Research, National Clinical Research Center of Kidney Disease, Division of Nephrology, Nanfang Hospital, Southern Medical University, Guangzhou, China;2. Department of Nephrology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi, China;3. Department of Nephrology, Huadu District People’s Hospital, Southern Medical University, Guangzhou, China;4. Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA;5. Bioland Laboratory (Guangzhou Regenerative Medicine and Health, Guangdong Laboratory), Guangzhou, China
Abstract:
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  • Keywords:DNAJB11  genetics  prenatal cystic kidney disease  primary cilia
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