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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype.

Autor: Pasquetti, Domizia, L'Erario, Federica Francesca, Marangi, Giuseppe, Panfili, Arianna, Chiurazzi, Pietro, Sonnini, Elena, Orteschi, Daniela, Alfieri, Paolo, Morleo, Manuela, Nigro, Vincenzo, Zollino, Marcella

Publikováno v: Clinical Genetics; Jan2024, Vol. 105 Issue 1, p81-86, 6p

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

Autor: Pasquetti D; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Gazzellone A; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Rossi S; Department of Neurosciences, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Neurology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Orteschi D; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., L'Erario FF; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Concolino P; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Minucci A; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Dionisi-Vici C; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy., Genuardi M; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Silvestri G; Department of Neurosciences, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Neurology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy., Chiurazzi P; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Dec 29; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 29.