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
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo M et al.
Frontiers in Immunology, 2022
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cheng H et al.
Cell Reports, 2018
30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5
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