Associated Papers
Syndromic ciliopathy: a taiwanese single-center study.
Pan YW et al.
Bmc Medical Genomics, 2024
38671463 (PubMed )
Supplement: 12920_2024_1880_MOESM3_ESM.pdf
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
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J et al.
Human Genetics, 2013
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