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A novel EP 300 mutation associated with Rubinstein‐Taybi syndrome type 2 presenting as combined immunodeficiency
Author(s) -
Saettini Francesco,
Moratto Daniele,
Grioni Andrea,
Maitz Silvia,
Iascone Maria,
Rizzari Carmelo,
Pavan Fabio,
Spinelli Marco,
Bettini Laura Rachele,
Biondi Andrea,
Badolato Raffaele
Publication year - 2018
Publication title -
pediatric allergy and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.269
H-Index - 89
eISSN - 1399-3038
pISSN - 0905-6157
DOI - 10.1111/pai.12968
Subject(s) - medicine , rubinstein–taybi syndrome , immunodeficiency , mutation , content (measure theory) , combinatorics , genetics , immunology , dermatology , gene , immune system , biology , mathematical analysis , mathematics