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
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
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