Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome

ConclusionWe revealed a novel mutation inPAX3 and a de novo mutation inSOX10, which might account for the underlying pathogenesis of WS. This study expands the database of bothPAX10 andPAX3 mutations and improves our understanding of the causes of WS.

Source: Molecular Genetics & Genomic Medicine - March 18, 2020 Category: Genetics & Stem Cells Authors: Yongbo Yu, Wei Liu, Min Chen, Yang Yang, Yeran Yang, Enyu Hong, Jie Lu, Jun Zheng, Xin Ni, Yongli Guo, Jie Zhang Tags: ORIGINAL ARTICLE Source Type: research