Scientific Article 🇬🇧 Directly KS related

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

person Dmitrijs Rots et al., The American Journal of Human Genetics

calendar_today Aug 8, 2024

Study of 209 people with rare EHMT1 variants combined clinical review, computer and lab testing, and DNA methylation “episignature” analysis. Researchers confirmed KS in 191 individuals and found that different EHMT1 variant types can cause milder or more typical KS features, improving variant interpretation, counseling, and care planning.