Genotype phenotype correlation in dent disease 2 and review of the literature: Ocrl gene pleiotropism or extreme phenotypic variability of lowe syndrome?

Medicine & Life Sciences

• Dent Disease 2 100%
• Oculocerebrorenal Syndrome 82%
• Population Biological Variation 60%
• Genetic Association Studies 52%
• Mutation 27%
• Genes 19%
• Kidney 18%
• Phenotype 8%
• Dent Disease 8%
• Pleckstrin Homology Domains 6%
• Eye 6%
• Missense Mutation 5%
• Phosphoric Monoester Hydrolases 5%
• Protein Domains 4%
• Codon 4%
• Gene Frequency 4%
• Rare Diseases 4%
• Genotype 3%
• Muscles 2%
• Brain 2%