Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Variants loci and phenotype correlation of TRIM8-related neuro-renal syndrome: three cases reports and literature review.
Lv Q et al.
Frontiers in Neurology, 2024
Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel de novo pathogenic variation in TRIM8 gene: A case report.
Luo DY et al.
Sage Open Medical Case Reports, 2024
[Genetic analysis of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome].
Sun X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
De novo truncating variants of TRIM8 and atypical neuro-renal syndrome: a case report and literature review.
Li W et al.
Italian Journal of Pediatrics, 2023
37061734 (PubMed )
Supplement: 13052_2023_1453_MOESM1_ESM.pdf
Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature Review.
Li X et al.
Frontiers in Pediatrics, 2022
A novel de novo truncating TRIM8 variant associated with childhood-onset focal segmental glomerulosclerosis without epileptic encephalopathy: a case report.
Shirai Y et al.
Bmc Nephrology, 2021
Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.
Stippel M et al.
Frontiers in Genetics, 2021
34122504 (PubMed )
Supplement: Data_Sheet_1.xlsx › Index_cases_not_in_manuscript
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Assoum M et al.
American Journal of Medical Genetics. Part A, 2018
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