Two mutations in the SBDS gene reveal a diagnosis of Shwachman–Diamond syndrome in a patient with atypical symptoms

por Spangenberg, María Noel, Grille, Sofia, Simoes, Camila, Dell'Oca, Nicolás, Boada, Matilde, Guillermo, Cecilia, Raggio, Victor, Spangenberg, Lucía
Publicado 2022

Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation

por Spangenberg, María Noel, Grille, Sofía, Simoes, Camila, Brandes, Mariana, Garcia-Luna, Joaquín, Catalán, Ana Inés, Ranero, Sabrina, Boada, Matilde, Brugnini, Andreína, Trias, Natalia, Lens, Daniela, Raggio, Víctor, Spangenberg, Lucía
Publicado 2023