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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hajdu cheney syndrome
Comorbidity C0003864|arthritis
Sentences 2
PubMedID- PMC3046094 In particular, the mmp2 gene is mutated in the multicentric osteolysis with arthritis (moa) syndrome.
PubMedID- PMC3046078 They find that mmp2, which is mutated in multicentric osteolysis with arthritis in humans, is required during the remodelling phase of fracture repair, at later stages than mmp9 and mmp13.

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