Case report : characterizing the role of the STXBP2-R190C monoallelic mutation found in a patient with hemophagocytic syndrome and Langerhans cell histiocytosis

Laura Viñas Gimenez, Rafael Rincón, Roger Colobrán Oriol, Xavier de la Cruz, Verónica Paola Celis, José Luis Dapena, Laia Alsina Manrique, Joan Sayós, Mónica Martínez Gallo

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Medicine and Dentistry

Immunology and Microbiology