Associated Papers
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.
Feresin A et al.
American Journal of Medical Genetics. Part A, 2025
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation.
Yan K et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
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