A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report International Journal of Molecular Sciences
A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report BMC Nephrology
De Novo TRIM8 Variants Impair Its Protein Localization to Nuclear Bodies and Cause Developmental Delay, Epilepsy, and Focal Segmental Glomerulosclerosis American Journal of Human Genetics
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation European Journal of Medical Genetics
