Associated Papers
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.
Chen Q et al.
Renal Failure, 2025
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf
A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2022
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Olinger E et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
[Clinical features and TTC21B genotype of a child with nephronophthisis type 12].
Jian S et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
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