Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

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作者： Emanuele,Agolini ^[1] ; Elena,Botta ^[2] ; Mariachiara,Lodi ^[3] ; Maria Cristina,Digilio ^[4] ; Martina,Rinelli ^[1] ; Emanuele,Bellacchio ^[4] ; Viola,Alesi ^[1] ; Tiziana,Nardo ^[2] ; Giovanna,Zambruno ^[4] ; Donata,Orioli ^[2] ; Iside,Alessi ^[3] ; Luigi,Boccuto ^[5] ; Sabrina,Rossi ^[6] ; Andrea,Carai ^[7] ; Giovanna Stefania,Colafati ^[8] ; Antonella,Cacchione ^[9] ; Bruno,Dallapiccola ^[3] ; Antonio,Novelli ^[4] ; Angela,Mastronuzzi ^[1]

作者单位： Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[1] Institute of Molecular Genetics LL Cavalli Sforza-CNR, Pavia, Italy. ^[2] Department of Hematology/Oncology, Gene and Cell Therapy, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy. ^[3] Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy. ^[4] College of Behavioral, Social and Health Sciences, Clemson University, Clemson, South Carolina, USA. ^[5] Greenwood Genetic Center, Greenwood, South Carolina, USA. ^[6] Pathology Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[7] Neurosurgery Unit, Department of Neurosciences and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy. ^[8] Neuroradiology Unit, Department of Imaging, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy. ^[9]

关键词 DNA repair-deficiency disorder ERCC2 XPD pilocytic astrocytoma