Associated Papers
Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome.
Shim YJ et al.
Pediatric Blood & Cancer, 2026
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S4Tab_DD-166_DNA_variants
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
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