Identification of nine novel variants across <scp><i>PAX3</i></scp>, <scp><i>SOX10</i></scp>, <scp><i>EDNRB</i></scp>, and <scp><i>MITF</i></scp> genes in Waardenburg syndrome with next‐generation sequencing

Abstract

This study revealed highly phenotypic variability in Taiwanese WS patients and demonstrated that targeted NGS allowed us to clarify the genetic diagnosis and extend the genetic variant spectrum of WS.