Irene Valenzuela

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...

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

Glycosylphosphatidylinositol-anchored proteins (GPI-APs) are essential for neuronal development, synaptic organization and signaling. Defects in GPI-anchor biosynthesis or remodeling cause rare neurodevelopmental disorders, including post-GPI attachment to proteins 1 (PGAP1) defi...