Associated Papers
Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.
Ng R et al.
Orphanet Journal of Rare Diseases, 2024
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.
Alkhateeb A et al.
Journal of Pediatric Genetics, 2019
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham E et al.
American Journal of Human Genetics, 2015
Select a paper to view details