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Saettini, F., Moratto, D., Grioni, A., Maitz, S., Iascone, M., Rizzari, C., et al. (2018). A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. PEDIATRIC ALLERGY AND IMMUNOLOGY, 29(7), 776-781 [10.1111/pai.12968].

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency

Saettini, Francesco
;Grioni, Andrea;Rizzari, Carmelo;Pavan, Fabio;Spinelli, Marco;Bettini, Laura Rachele;Biondi, Andrea;
2018
Articolo in rivista - Articolo scientifico
autoimmune lymphoproliferative syndrome; combined immunodeficiency; common variable immunodeficiency; Rubinstein-Taybi syndrome; syndromic immunodeficiency;
autoimmune lymphoproliferative syndrome; combined immunodeficiency; common variable immunodeficiency; Rubinstein-Taybi syndrome; syndromic immunodeficiency; Adolescent; E1A-Associated p300 Protein; Humans; Male; Mutation, Missense; Rubinstein-Taybi Syndrome; Severe Combined Immunodeficiency; Pediatrics, Perinatology and Child Health; Immunology and Allergy; Immunology
English
2018
29
7
776
781
none
Saettini, F., Moratto, D., Grioni, A., Maitz, S., Iascone, M., Rizzari, C., et al. (2018). A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency. PEDIATRIC ALLERGY AND IMMUNOLOGY, 29(7), 776-781 [10.1111/pai.12968].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/226133
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