A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia
ABSTRACT Background Pathogenic germline missense and in‐frame indel variants in exons 30 or 31 of the EP300 gene are associated with Menke–Hennekam syndrome‐2 (MKHK2). The phenotypic spectrum associated with MKHK2 is variable, including neurodevelopmental, respiratory, skeletal, and immunological im...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-06-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.70102 |
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