Associated Papers
Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
Bergamasco MI et al.
The Journal of Clinical Investigation, 2024
38557491 (PubMed )
Supplement: jci-134-167672-s087.pdf
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A et al.
American Journal of Medical Genetics. Part A, 2019
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