Associated Papers
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.
Chen Q et al.
Renal Failure, 2025
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
Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B.
Hibino S et al.
Internal Medicine (tokyo, Japan), 2020
Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H et al.
Nephrology (carlton, Vic.), 2018
Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype.
Chen L et al.
Current Molecular Medicine, 2018
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
Ars E et al.
Clinical Kidney Journal, 2017
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Bullich G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
The expanding phenotypic spectra of kidney diseases: insights from genetic studies.
Stokman MF et al.
Nature Reviews. Nephrology, 2016
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