A recurrent synonymousKAT6Bmutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

(2014) Hung-Chun Yu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further delineation of the KAT6B molecular and phenotypic spectrum

(2014) Tamsin Gannon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

(2013) Katalin Szakszon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2012) Michael A. Simpson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

(2012) Philippe M. Campeau et al.   HUMAN MUTATION

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

(2011) Jill Clayton-Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS