Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.

导出 OA

翻译打印收藏纠错

第一作者： Domizia,Pasquetti

第一单位： Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

作者： Domizia,Pasquetti ^[1] ; Annalisa,Gazzellone ^[2] ; Salvatore,Rossi ^[1] ; Daniela,Orteschi ^[2] ; Federica Francesca,L'Erario ^[3] ; Paola,Concolino ^[4] ; Angelo,Minucci ^[1] ; Carlo,Dionisi-Vici ^[2] ; Maurizio,Genuardi ^[1] ; Gabriella,Silvestri ^[2] ; Pietro,Chiurazzi ^[5]

作者单位： Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy. ^[1] Medical Genetics Unit, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy. ^[2] Department of Neurosciences, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy. ^[3] Neurology Unit, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy. ^[4] Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy. ^[5] Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy. ^[6]

关键词 15q11.2 duplication CES CMA intellectual disability leukodystrophy phenylketonuria polycystic kidney disease