The clinical spectrum of a nonsense mutation in : a case report
KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A ( KAT6A ) gene. There are some differences in phenotype between KAT6A gene variants. This current case report describes a 1-month-old male infant that...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-12-01
|
| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605221140304 |