Associated Papers
KAT6B overexpression in mice causes aggression, anxiety, and epilepsy.
Bergamasco MI et al.
Iscience, 2025
40083716 (PubMed )
Supplement: mmc1.pdf
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N et al.
Epigenomics, 2023
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M et al.
Molecular Genetics & Genomic Medicine, 2021
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
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
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period.
Takahashi K et al.
Case Reports in 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
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Radvanszky J et al.
Clinical Genetics, 2017
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T et al.
European Journal of Human Genetics : Ejhg, 2015
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Yu HC et al.
American Journal of Medical Genetics. Part A, 2014
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM et al.
Human Mutation, 2012
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