eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lowe syndrome |
| Comorbidity | C0028860|lowe syndrome |
| Sentences | 6 |
| PubMedID- 23692838 | This is a new mutation involving the ocrl1 gene in a patient with lowe syndrome of turkish origin and expands the mutation spectrum in this disorder. |
| PubMedID- 25838181 | The lowe syndrome protein ocrl1 is required for endocytosis in the zebrafish pronephric tubule. |
| PubMedID- 25305077 | Ocrl mutations are associated with both lowe syndrome and dent-2 disease, two rare x-linked conditions. |
| PubMedID- 22228094 | The lowe syndrome protein ocrl1 is involved in primary cilia assembly. |
| PubMedID- 21448331 | We report here a novel pathogenic dna variation in exon 15 of the ocrl1 gene in a patient with lowe syndrome. |
| PubMedID- 25297642 | Novel mutation of ocrl1 in lowe syndrome. |
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