Disease: Oculocerebrorenal syndrome
- A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test
- A Case of Hidradenitis Suppurativa in a Genetically Confirmed Lowe Syndrome Patient
- A missense mutant of ocrl1 promotes apoptosis of tubular epithelial cells and disrupts endocytosis and the cell cycle of podocytes in Dent-2 Disease
- Assessment of endocytic traffic and Ocrl function in the developing zebrafish neuroepithelium
- Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
- Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome
- Corneal Keloid in Lowe Syndrome
- Dental needs and conditions of individuals with Lowe syndrome: An observational study
- Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
- Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with <em>OCRL</em> Mutations
- Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes
- Inherited Fanconi syndrome
- Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Lowe Syndrome
- Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma
- Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review
- Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature
- Oculocerebrorenal Syndrome
- Oculocerebrorenal Syndrome
- Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P(2) hydrolysis in the plasma membrane
- Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P<sub>2</sub> hydrolysis in the plasma membrane
- Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading
- Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome