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Tzetis M, Mitrakos A, Papathanasiou I, Koute V, Kosma K, Pons R, Michoula A, Grivea I, Tsezou A. A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review. Genes. 2025; 16(5):521. https://doi.org/10.3390/genes16050521

Tzetis, Maria, Anastasios Mitrakos, Ioanna Papathanasiou, Vasiliki Koute, Konstantina Kosma, Roser Pons, Aspasia Michoula, Ioanna Grivea, and Aspasia Tsezou. 2025. "A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review" Genes 16, no. 5: 521. https://doi.org/10.3390/genes16050521

Tzetis, M., Mitrakos, A., Papathanasiou, I., Koute, V., Kosma, K., Pons, R., Michoula, A., Grivea, I., & Tsezou, A. (2025). A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review. Genes, 16(5), 521. https://doi.org/10.3390/genes16050521