REFERENCES

1. Adam MP, Hudgins L, Hannibal M. Kabuki syndrome. GeneReviews®. Seattle: University of Washington; 2011.

2. Adam MP, Banka S, Bjornsson HT, et al. Kabuki Syndrome Medical Advisory Board. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet 2019;56:89-95.

3. Barry KK, Tsaparlis M, Hoffman D, et al. From genotype to Phenotype-A review of kabuki syndrome. Genes 2022;13:1761.

4. Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H. A novel intronic KMT2D variant as a cause of kabuki syndrome: a case report. Appl Clin Genet 2021;14:409-16.

5. Cocciadiferro D, Augello B, De Nittis P, et al. Dissecting KMT2D missense mutations in Kabuki syndrome patients. Hum Mol Genet 2018;27:3651-68.

6. Wang YR, Xu NX, Wang J, Wang XM. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms. World J Pediatr 2019;15:528-35.

7. Froimchuk E, Jang Y, Ge K. Histone H3 lysine 4 methyltransferase KMT2D. Gene 2017;627:337-42.

8. Teranishi H, Koga Y, Nakashima K, et al. Cancer management in kabuki syndrome: the first case of wilms tumor and a literature review. J Pediatr Hematol Oncol 2018;40:391-4.

9. Bernier FE, Schreiber A, Coulombe J, Hatami A, Marcoux D. Pilomatricoma associated with kabuki syndrome. Pediatr Dermatol 2017;34:e26-7.

10. Roma D, Palma P, Capolino R, et al. Spinal ependymoma in a patient with Kabuki syndrome: a case report. BMC Med Genet 2015;16:80.

11. Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Kabuki syndrome-clinical review with molecular aspects. Genes 2021;12:468.

12. de Billy E, Strocchio L, Cacchione A, et al. Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation. Am J Med Genet A 2019;179:113-7.

13. Aukema SM, Glaser S, van den Hout MFCM, et al. Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes. Fam Cancer 2023;22:103-18.

14. Herodež Š Š, Varda NM, Krgović D. De novo KMT2D heterozygous frameshift deletion in a newborn with a congenital heart anomaly. Balkan J Med Genet 2020;23:83-90.

15. Wang H, Wang X, Wang CF. Comparison of clinical characteristics between benign borderline and malignant phyllodes tumors of the breast. Asian Pac J Cancer Prev 2014;15:10791-5.

16. Strode M, Khoury T, Mangieri C, Takabe K. Update on the diagnosis and management of malignant phyllodes tumors of the breast. Breast 2017;33:91-6.

17. Bögershausen N, Altunoglu U, Beleggia F, et al. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Am J Med Genet A 2016;170:3282-8.

18. Bishop KC, Perrino CM, Ruzinova MB, Brunt EM. Ciliated hepatic foregut cyst: a report of 6 cases and a review of the English literature. Diagn Pathol 2015;10:81.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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