Associated Papers
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
32424177 (PubMed )
Supplement: 1-s2.0-S1098360021006924-mmc1.xlsx › TS1._New_cohort_sequencing
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
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
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Campeau PM et al.
American Journal of Human Genetics, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Simpson MA et al.
American Journal of Human Genetics, 2012
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