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
A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12.
Abo El Fotoh WMM et al.
Journal of Pediatric Genetics, 2020
Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H et al.
Nephrology (carlton, Vic.), 2018
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