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: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2022-12-01
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Series: | Journal of International Medical Research |
Online Access: | https://doi.org/10.1177/03000605221140304 |