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(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.

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第一作者： Laura,Fontana

第一单位： Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.;Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

作者： Laura,Fontana ^[1] ; Maria F,Bedeschi ^[2] ; Giulia A,Cagnoli ^[2] ; Jole,Costanza ^[3] ; Nicola,Persico ^[4] ; Silvana,Gangi ^[5] ; Matteo,Porro ^[6] ; Paola F,Ajmone ^[7] ; Patrizia,Colapietro ^[1] ; Carlo,Santaniello ^[3] ; Milena,Crippa ^[8] ; Silvia M,Sirchia ^[9] ; Monica,Miozzo ^[1] ; Silvia,Tabano ^[10]

作者单位： Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.;Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[1] Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[2] Research Laboratories Coordination Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[3] Obstetrics and Gynecology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.;Department of ClinicalSciences and Community Health, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[4] NICU, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[5] Pediatric Physical Medicine & Rehabilitation Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[6] Child and AdolescentNeuropsychiatric Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. ^[7] Medical Cytogenetics& Human Molecular Genetics, Istituto Auxologico Italiano-IRCCS, Milano, Italy. ^[8] Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano, Italy. ^[9] Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.;Laboratory of Medical Genetics, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy. ^[10]

关键词 Beckwith-Wiedemann Syndrome X-chromosome inactivation prenatal diagnosis twins whole exome sequencing