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
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
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