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1. [Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome].
2. [A case of SBBYSS syndrome caused by KAT6B gene variant].
3. [Clinical phenotype and genetic analysis of a child with 14q12q13 microdeletion syndrome manifesting as congenital hypothyroidism].
4. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
5. A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.
6. Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
7. De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.
8. 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.
9. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
10. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.