eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cockayne syndrome |
| Comorbidity | C0011847|diabetes |
| Sentences | 1 |
| PubMedID- 26350127 | Methods: we report here the clinical description of a woman with a rare severe lipodystrophic and progeroid syndrome associated with hypertriglyceridemia and diabetes whose genetic bases have been clarified through whole-exome sequencing (wes) analysis. |
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