Associated Papers
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.
Chen Q et al.
Renal Failure, 2025
Molecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT.
Deng K et al.
Frontiers in Genetics, 2025
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2024
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2023
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 mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
Chen W et al.
Human Genomics, 2022
[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].
Zhang J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.
Wang Z et al.
Npj Genomic Medicine, 2021
34215756 (PubMed )
Supplement: 41525_2021_219_MOESM1_ESM.pdf
A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12.
Abo El Fotoh WMM et al.
Journal of Pediatric Genetics, 2020
[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
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H et al.
Nephrology (carlton, Vic.), 2018
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