Gijs W.E. Santen

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...

The behavioural phenotype of Coffin-Siris syndrome beyond diagnostic categories: recognizing behavioural heterogeneity

Abstract Background Children with Mendelian neurodevelopmental disorders (NDDs) carry genetic variations that increase the risk for a variety of behavioural problems. Behavioural heterogeneity in these conditions often crosses traditional behavioural syndrome classification categ...