Risk factors for mortality in cartilage-hair hypoplasia
Data has been extracted and provided to the study team. Analysis completed and manuscript submitted (12/2023)
Retrospective cohort study for risk factor validation.
Inclusion of all patients with mutations in RMRP and/or diagnosis of cartilage-hair hypoplasia.
PI:
Svetlana Vakkilainen, on behalf of Finnish CHH research group.
Data from the ESID-Registry has been extracted and provided to the research group after approval by the respective documenting centres.