ArticleTranslational pediatrics2026
Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Arboleda-Tham syndrome is an autosomal dominant disorder caused by mutations in the lysine acetyltransferase 6A ( Case Description: We report a 4-year and 7-month-old Chinese boy who presented with global developmental delay, severe intellectual disability, and markedly limited expressive language. Physical examination revealed no seizures, cardiac malformations, or growth retardation. Initial chromosomal copy number variation sequencing (CNV-seq) detected no pathogenic abnormalities. To identify the underlying molecular defect, whole-exome sequencing (WES) was performed on the proband and both parents. WES revealed a novel, Conclusions: This report expands the mutational spectrum of
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