eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | schimke immuno-osseous dysplasia |
| Comorbidity | C0040188|tic disorders |
| Sentences | 1 |
| PubMedID- 24013402 | Enzymes from the sf2 superfamily have a crucial role in genome maintenance and, in humans, defects in different sf2 helicases, such as bloom syndrome helicase, werner syndrome helicase, rothmund–thomson syndrome or harp (schimke immuno-osseous dysplasia) can lead to different genetic disorders10. |
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