Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
Ryszard SlezakRobert SmigielMalgorzata RydzaniczAgnieszka PollakJoanna KosinskaPiotr StawinskiMaria Malgorzata SasiadekPloski RafalPublished in: Molecular genetics & genomic medicine (2020)
As there are no precise criteria established for the clinical diagnosis of ZTTK, an identification of SON gene mutation by whole-exome-sequencing is the best method that allows for a diagnosis of this syndrome.