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A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.
Saettini, Francesco; Moratto, Daniele; Grioni, Andrea; Maitz, Silvia; Iascone, Maria; Rizzari, Carmelo; Pavan, Fabio; Spinelli, Marco; Bettini, Laura Rachele; Biondi, Andrea; Badolato, Raffaele.
Afiliação
  • Saettini F; Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
  • Moratto D; Department of Pathology, Institute for Molecular Medicine A. Nocivelli, Laboratory of Genetic Disorders of Childhood, University of Brescia, Brescia, Italy.
  • Grioni A; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Maitz S; Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
  • Iascone M; Faculty of Science, National Centre for Biomolecular Research, Masaryk University, Brno, Czech Republic.
  • Rizzari C; Centro Ricerca Tettamanti, Fondazione MBBM, Monza, Italy.
  • Pavan F; Clinical Pediatric Genetics Unit, Pediatrics Clinics, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.
  • Spinelli M; USSD Laboratorio di Genetica Medica, Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy.
  • Bettini LR; Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
  • Biondi A; Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
  • Badolato R; Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
Pediatr Allergy Immunol ; 29(7): 776-781, 2018 11.
Article em En | MEDLINE | ID: mdl-30076641
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi / Imunodeficiência Combinada Severa / Proteína p300 Associada a E1A Tipo de estudo: Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi / Imunodeficiência Combinada Severa / Proteína p300 Associada a E1A Tipo de estudo: Risk_factors_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article