Associated Papers
A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.
Hordijk S et al.
Blood, 2025
MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.
Schütze K et al.
Blood Advances, 2023
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE et al.
Brain : a Journal of Neurology, 2020
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