Mendez R, Delea M, Dain L, Rittler M. A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. Clin Dysmorphol. 2020 Jan;29(1):42–5. doi: 10.1097/mcd.0000000000000270. PMID: 30921092.
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome