2024

De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice

2023

Clinical heterogeneity of polish patients with KAT6B–related disorder

Clinical features and underlying mechanisms of KAT6B disease in Chinese boy

The omics era: A nexus of untapped potential for Mendelian chromatinopathies

2022

The role of histone modifications: From neurodevelopment to neurodiseases
A case of ophthalmoplegia, hypotonia, and developmental delay in the setting of corpus callosum hypoplasia

2021

A Neonate with Say–Barber–Biesecker–Young–Simpson Syndrome with a Novel Pathogenic Mutation in KAT6B Gene: A Case Report

Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders

Novel Variants in KAT6B Spectrum of Disorders Expand Our Knowledge of Clinical Manifestations and Molecular Mechanisms

2020

A Novel Pathogenic Frameshift Variant of KAT6B Identified by Clinical Exome Sequencing in a Newborn with the Say–Barber–Biesecker–Young–Simpson Syndrome

Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants

KAT6B Disorders

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

The Key Roles of the Lysine Acetyltransferases KAT6A and KAT6B in Physiology and Pathology

 

2019

Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Novel KAT6B Proximal Familial Variant Expands Genotypic and Phenotypic Spectrum

Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome: Lumping or Splitting?

 

2018

Novel Truncating Variants Expand the Phenotypic Spectrum of KAT6B-Related Disorders

 

2017

A Novel Truncating Variant within Exon 7 of KAT6B Associated with Features of Both Say-Barber-Bieseker-Young-Simpson Syndrome and Genitopatellar Syndrome: Further Evidence of a Continuum in the Clinical Spectrum of KAT6B -Related Disorders

A Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome with a KAT6B 10-Base Pair Palindromic Duplication: A Recurrent Mutation Causing a Severe Phenotype Mixed with Genitopatellar Syndrome

Craniosynostosis Expands the Spectrum of the KAT6B Related Disorders

De Novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome

Identifying the KAT6B mutation Via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Lin-Gettig Syndrome: Craniosynostosis Expands the Spectrum of the KAT6B Related Disorders

 

2016

De Novo Mutation of KAT6B Gene Causing Atypical Say–Barber–Biesecker–Young–Simpson Syndrome or Genitopatellar Syndrome

Features of KAT6B-Related Disorders in a Patient with 10q22.1q22.3 Deletion

 

2015

A Patient Showing Features of Both SBBYSS and GPS Supports the Concept of a KAT6B-Related Disease Spectrum, with Mutations in Mid-exon 18 Possibly Leading to Combined Phenotypes

A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing

Further Delineation of the KAT6B Molecular and Phenotypic Spectrum

 

2014

An Individual with Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B
Further Delineation of the KAT6B Molecular and Phenotypic Spectrum

 

2013

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B in Two Patients with Say-Barber/Biesecker/Young-Simpson Syndrome

 

2012

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

The KAT6B-Related Disorders Genitopatellar Syndrome and Ohdo/SBBYS Syndrome Have Distinct Clinical Features Reflecting Distinct Molecular Mechanisms

 

2011

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome