Registry Working Party

CHH-Study: Risk factors for mortality in cartilage-hair hypoplasia

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.