Associated Papers
Clinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.
Song JR et al.
Genes, 2025
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.
Watanabe Y et al.
The Tohoku Journal of Experimental Medicine, 2019
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Yamamura T et al.
Clinical and Experimental Nephrology, 2017
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG et al.
Experimental & Molecular Medicine, 2016
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