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Article

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

Orphanet journal of rare diseases - 13 May 2024

Ng Rowena, Kalinousky Allison J, Harris Jacqueline

Abstract excerpt

BACKGROUND: KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g., minimally verbal) are common features of the disorder, with late-truncating variants associated with a more severe form of intellectual disability. However, much of the cognitive...

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Identifiers

PMID: 38741077
DOI: 10.1186/s13023-024-03175-0
PMCID: PMC11092058

Genes

KAT6A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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