Mariana Pérez‐Coria

Expanding the Clinical and Molecular Spectrum of Cartilage-Hair Hypoplasia in the Mexican Population

Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive skeletal dysplasia caused by variants in RMRP (RNA component of mitochondrial RNA processing endoribonuclease), which encodes a non-coding RNA. Despite its well-established clinical and molecular spectrum in some popul...