@article{article, title = {{Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome}}, publisher = {{Elsevier BV}}, url = {{http://dx.doi.org/10.1016/j.ajhg.2024.06.008 }}, year = {{2024}}, month = {{7}}, author = {{Rots D and Bouman A and Yamada A and Levy M and Dingemans AJM and de Vries BBA and Ruiterkamp-Versteeg M and de Leeuw N and Ockeloen CW and Pfundt R and de Boer E et al}}, doi = {{10.1016/j.ajhg.2024.06.008}}, journal = {{The American Journal of Human Genetics}}, note = {{Accessed on 2025/05/31}}}