Cartilage-hair hypoplasia in a patient with compound heterozygous variants in the RMRP gene: A case report

This report describes a rare case of RMRP-associated CHH. This case broadens the clinical understanding of the RMRP mutational spectrum and phenotypic variability, providing new insights into genotype-phenotype correlations in RMRP-associated disorders. We were currently unable to take effective treatment measures for this child, and we hope that in the future, there will be treatments such as gene therapy to bring hope to children and their families.