Associated Papers
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L et al.
Genetics Research, 2022
Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
Gianesello L et al.
Genes, 2021
34680992 (PubMed )
Supplement: genes-12-01597-s001.zip › genes-1384973-supplementary.pdf
Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.
Zhang DD et al.
Genetics and Molecular Research : Gmr, 2016
A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.
Sugimoto K et al.
The Tohoku Journal of Experimental Medicine, 2014
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
Sekine T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
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