A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.
作者信息
Saettini Francesco, Moratto Daniele, Grioni Andrea, Maitz Silvia, Iascone Maria, Rizzari Carmelo, Pavan Fabio, Spinelli Marco, Bettini Laura Rachele, Biondi Andrea, Badolato Raffaele
机构信息
Department of Pediatrics, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
Department of Pathology, Institute for Molecular Medicine A. Nocivelli, Laboratory of Genetic Disorders of Childhood, University of Brescia, Brescia, Italy.
出版信息
Pediatr Allergy Immunol. 2018 Nov;29(7):776-781. doi: 10.1111/pai.12968. Epub 2018 Sep 28.
PMID:30076641
Abstract
摘要
Zotero 插件