Associated Papers
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 › TS4._Review_of_published_cases
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Lonardo F et al.
Clinical Genetics, 2019
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
Szakszon K et al.
American Journal of Medical Genetics. Part A, 2013
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
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