Identification of a novel truncating mutation in the distal part of KAT6B exon 18 in a girl with a typical Say-Barber-Biesecker-Young-Simpson phenotype.
Authors: Małgorzata Krajewska-Walasek; Magdalena Pelc; Dorota Jurkiewicz; Marzena Kucharczyk; Aleksandra Jezela-Stanek; R. Płoski; Elżbieta Ciara
Published in: European Human Genetics Conference 2015
Publication type: conference