Associated Papers
Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.
Kido J et al.
Human Genome Variation, 2025
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Novak W et al.
British Journal of Haematology, 2023
Congenital and acquired defects of immunity: An ever-evolving story.
Castagnoli R et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo M et al.
Frontiers in Immunology, 2022
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte OM et al.
Blood, 2021
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