Further Delineation of Duplications of <i>ARX</i> Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

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作者： Loredana,Poeta ^[1] ; Michela,Malacarne ^[2] ; Agnese,Padula ^[3] ; Denise,Drongitis ^[4] ; Lucia,Verrillo ^[1] ; Maria Brigida,Lioi ^[1] ; Andrea M,Chiariello ^[1] ; Simona,Bianco ^[2] ; Mario,Nicodemi ^[5] ; Maria,Piccione ^[5] ; Emanuela,Salzano ^[5] ; Domenico,Coviello ^[6] ; Maria Giuseppina,Miano ^[7]

作者单位： Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council (CNR), 80131 Naples, Italy. ^[1] Department of Science, University of Basilicata, 85100 Potenza, Italy. ^[2] Institute for Electromagnetic Sensing of the Environment (IREA), National Research Council (CNR), 80124 Naples, Italy. ^[3] Laboratory of Human Genetics, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Giannina Gaslini Institute, 16147 Genoa, Italy. ^[4] Department of Physics, University of Naples "Federico II", 80126 Naples, Italy. ^[5] National Research Council-Superconducting and Other Innovative Materials and Devices Institute (CNR-SPIN), Unit of Naples, 80126 Naples, Italy. ^[6] Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, 90127 Palermo, Italy. ^[7] Medical Genetics Unit, Azienda Ospedaliera Ospedali Riuniti (AOOR), Villa Sofia Cervello, 90146 Palermo, Italy. ^[8]

关键词 3D structure ARX KDM5C-SYN1 axis Xp21.3 duplication intellectual disability ultraconserved enhancers