A Novel <i>EP300</i> Variant in an African American Girl With Global Developmental Delay and Leukemia
Together, this case expands the growing body of knowledge regarding the clinical and genetic spectrum of MKHK2. This is the first MKHK individual reported in the literature in an underrepresented population of African American ancestry.
Authors
- Subit Barua (ORCID: https://orcid.org/0000-0002-2667-6434)
- Alejandro Iglesias (ORCID: https://orcid.org/0000-0002-6487-436X)
- Jun Liao (ORCID: https://orcid.org/0000-0002-9806-2722)
- Vundavalli V. Murty
Institutions
- West Virginia University (US)
- Columbia University Irving Medical Center (US)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1002/mgg3.70102
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00