Associated Papers
Expanding the Phenotypic Spectrum of DPH2 -Related Disorder.
Gowda VK et al.
American Journal of Medical Genetics. Part A, 2025
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.
Ütkür K et al.
Disease Models & Mechanisms, 2023
37675463 (PubMed )
Supplement: dmm-16-050207-s1.pdf
Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.
Hawer H et al.
European Journal of Human Genetics : Ejhg, 2020
Select a paper to view details