Associated Papers
Acetyl-carnitine improves hyperactivity and learning deficits in KAT6A haploinsufficient mice.
Eccles S et al.
Life Science Alliance, 2026
Comprehensive review and outline of genotypes and phenotypes of Arboleda-Tham syndrome spectrum: insights from novel variants.
Bayat S et al.
Molecular Biology Reports, 2025
Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2024
38773911 (PubMed )
Supplement: MGG3-12-e2420-s001.xlsx › Table_S1
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R et al.
Orphanet Journal of Rare Diseases, 2020
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing.
Alkhateeb A et al.
Journal of Pediatric Genetics, 2019
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
Trinh J et al.
Journal of Human Genetics, 2018
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Zwaveling-Soonawala N et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Variants in KAT6A and pituitary anomalies.
Zwaveling-Soonawala N et al.
American Journal of Medical Genetics. Part A, 2017
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