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Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma
Authors:Kiril Malovitski  Ofer Sarig  Sari Assaf  Janan Mohamad  Liron Malki  Shir Bergson  Alon Peled  Marina Eskin-Schwartz  Andrea Gat  Mor Pavlovsky  Eli Sprecher
Institution:1. Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;3. Faculty of Health Sciences, Ben Gurion University of the Negev, Be’er Sheva, Israel;4. Genetic Institute, Soroka University Medical Center, Be’er Sheva, Israel;5. Institute of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel;1. Department of Biomedical and Clinical Sciences “L. Sacco”, University of Milan, Milan, Italy;2. Pediatric Radiology and Neuroradiology Department, Vittore Buzzi Children’s Hospital, Milan, Italy;3. COALA (Center for diagnosis and treatment of leukodystrophies), Vittore Buzzi Children''s Hospital, Milan, Italy;4. Child Neuropsychiatry Unit, UONPIA ASST Rhodense, Milan, Italy;5. Pediatric Clinical Research Center Fondazione Romeo ed Enrica Invernizzi, University of Milan, Milan, Italy;6. Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, University of Amsterdam, Amsterdam, The Netherlands;7. Molecular Genetics Section, Medical Genetics Laboratory, Papa Giovanni XXIII Hospital, Bergamo, Italy;8. Child Neurology Unit, Vittore Buzzi Children''s Hospital, Milan, Italy;1. Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;2. MRC Unit for Genomic and Precision Medicine, Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;3. Department of Biochemistry and Medical Microbiology, School of Medicine, University of Namibia, Windhoek, Namibia;4. Division of Medical Virology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa;5. Division of Human Genetics, Department of Pathology, Colorectal Cancer Research Group, Institute of Infectious Disease and Molecular Medicine, University of Cape Town, South Africa;1. The Comparative Health Outcomes, Policy, and Economics (CHOICE) Institute, Department of Pharmacy, University of Washington, Seattle, WA;2. Department of Biostatistics, Vanderbilt School of Medicine, Vanderbilt University Medical Center, Nashville, TN;3. Department of Health Policy, Vanderbilt School of Medicine, Vanderbilt University Medical Center, Nashville, TN;4. Institute for Public Health Genetics, University of Washington School of Public Health, Seattle, WA;5. Department of Health Policy & Behavioral Sciences, School of Public Health, Georgia State University, Atlanta, GA;6. Genomic Medicine Institute, Geisinger, Danville, PA;7. Department of Population Health Sciences, Geisinger, Danville, PA;8. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN;1. School of Women’s and Children’s Health, University of New South Wales, Randwick, New South Wales, Australia;2. Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, New South Wales, Australia;3. Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, The University of Sydney, New South Wales, Australia;4. Victorian Clinical Genetics Services, Parkville, Victoria, Australia;5. Murdoch Children’s Research Institute, Parkville, Victoria, Australia;6. UWA Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia;7. Harry Perkins Institute of Medical Research, Nedlands, Western Australia, Australia;8. NSW Health Pathology East Genomics Laboratory, Randwick, New South Wales, Australia;1. Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL;2. Departments of Pathology and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA;3. Center for Medical Genetics and Genomics, UPMC Magee-Womens Hospital, Pittsburgh, PA;4. Department of Obstetrics & Gynecology and Women’s Health, Montefiore Medical Center, Albert Einstein College of Medicine, New York, NY;5. Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC;1. Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway;2. Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, United Kingdom;3. Applied Tumor Genomic Research Program, University of Helsinki, Helsinki, Finland
Abstract:
Keywords:Palmoplantar keratoderma  Genodermatosis  Desmosome
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