A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

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第一作者： Roser,Urreizti

第一单位： Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. urreizti@ub.edu.

作者： Roser,Urreizti ^[1] ; Sarah,Damanti ^[2] ; Carla,Esteve ^[3] ; Héctor,Franco-Valls ^[3] ; Laura,Castilla-Vallmanya ^[3] ; Raul,Tonda ^[4] ; Bru,Cormand ^[3] ; Lluïsa,Vilageliu ^[3] ; John M,Opitz ^[5] ; Giovanni,Neri ^[6] ; Daniel,Grinberg ^[3] ; Susana,Balcells ^[3]

作者单位： Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. urreizti@ub.edu. ^[1] Geriatric Unit, Fondazione Ca'Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.;Nutritional Sciences, University of Milan, Milan, Italy. ^[2] Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, Barcelona, Spain. ^[3] CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.;Universitat Pompeu Fabra (UPF), Barcelona, Spain. ^[4] Pediatrics Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA. ^[5] Istituto di Medicina Genomica, Università Cattolica Sacro Cuore, Policlinico A. Gemelli, Rome, Italy. ^[6]