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
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A et al.
American Journal of Medical Genetics. Part A, 2019
KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).
Hamaguchi Y et al.
Human Genome Variation, 2019
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