@article{article, title  = {{Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome}},

 publisher = {{Elsevier BV}},

 url = {{https://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}},

 volume = {{111}},

 journal = {{The American Journal of Human Genetics}},

 issue = {{8}},

 pages = {{1605-1625}},

 note = {{Accessed on 2025/10/25}}}