Associated Papers
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Autoimmunity and immunodeficiency.
Hoyos-Bachiloglu R et al.
Current Opinion in Rheumatology, 2020
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.
Takeichi T et al.
Frontiers in Immunology, 2020
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Poli MC et al.
American Journal of Human Genetics, 2018
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
Gatz SA et al.
Human Mutation, 2016
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