Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
D Rots, A Bouman, A Yamada, M Levy… - The American Journal of …, 2024 - cell.com
The shift to a genotype-first approach in genetic diagnostics has revolutionized our
understanding of neurodevelopmental disorders, expanding both their molecular and …
understanding of neurodevelopmental disorders, expanding both their molecular and …