首页> American journal of medical genetics. Part A> Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.

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第一作者： Francesco,Saettini

第一单位： Pediatric Hematology Outpatient Clinic, Pediatric Department, Fondazione MBBM, Monza, Italy.;Centro Ricerca M. Tettamanti, University of Milano Bicocca, Fondazione MBBM/San Gerardo Hospital, Monza, Italy.

作者： Francesco,Saettini ^[1] ; Grazia,Fazio ^[2] ; Maria Teresa,Bonati ^[3] ; Daniele,Moratto ^[4] ; Valentina,Massa ^[5] ; Elisabetta,Di Fede ^[5] ; Silvia,Castiglioni ^[5] ; Daniela,Marchetti ^[6] ; Marco,Chiarini ^[4] ; Alessandra,Sottini ^[7] ; Maria,Iascone ^[6] ; Giovanni,Cazzaniga ^[2] ; Luisa,Imberti ^[7] ; Andrea,Biondi ^[1] ; Cristina,Gervasini ^[5] ; Raffaele,Badolato ^[8]

作者单位： Pediatric Hematology Outpatient Clinic, Pediatric Department, Fondazione MBBM, Monza, Italy.;Centro Ricerca M. Tettamanti, University of Milano Bicocca, Fondazione MBBM/San Gerardo Hospital, Monza, Italy. ^[1] Centro Ricerca M. Tettamanti, University of Milano Bicocca, Fondazione MBBM/San Gerardo Hospital, Monza, Italy. ^[2] Ambulatorio di Genetica Medica, Istituto Auxologico Italiano, IRCCS, Milano, Italy. ^[3] Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy. ^[4] Department of Medical Genetics, University of Milan, Milan, Italy. ^[5] Laboratorio di Genetica Medica, ASST-Papa Giovanni XXIII, Bergamo, Italy. ^[6] Centro di Ricerca Emato-oncologica AIL (CREA), ASST Spedali Civili, Brescia, Italy. ^[7] Pediatrics Clinic and A. Nocivelli Institute for Molecular Medicine A, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili, Brescia, Italy. ^[8]

关键词 CREBBP EP300 Rubinstein-Taybi syndrome inborn errors of immunity syndromic immunodeficiency