eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | opitz g/bbb syndrome |
| Comorbidity | C0030312|bone marrow failure |
| Sentences | 1 |
| PubMedID- 22761755 | Mutations in dyskerin (dkc1), the human homolog of an rrna modifying pseudouridine synthase, leads to dyskeratosis congenita, a premature aging syndrome with progressive bone marrow failure syndrome with predisposition to malignancy [30]. |
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