Hermine E. Veenstra‐Knol

Prenatal Presentation of RMRP ‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage-hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis. More than 140 variants in RMRP h...