Short Case ReportsA novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndromeMendez, Rodrigoa; Delea, Marisolb; Dain, Lilianab; Rittler, MonicacAuthor Information aDepartment of Medical Genetics bDepartment of Molecular Genetics, Centro Nacional de Genética Médica, ANLIS cDepartment of Medical Genetics, Hospital Materno Infantil “Ramón Sardá”, Buenos Aires, Argentina. Received 11 November 2018 Accepted 19 February 2019 Correspondence to Rodrigo Mendez, MD, Department of Medical Genetics, Centro Nacional de Genética Médica, 2670 Av. Gral. Las Heras, C1425, Buenos Aires, Argentina. Tel: +54 11 4801 2326; fax: +54 11 4801-2326. e-mail: email@example.com Clinical Dysmorphology: January 2020 - Volume 29 - Issue 1 - p 42-45 doi: 10.1097/MCD.0000000000000270 Buy Metrics Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.