Associated Papers
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
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE et al.
Nature Genetics, 2011
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
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