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

Yongbo YuWei LiuMin ChenYang YangYeran YangEnyu HongJie LuJun ZhengXin NiYongli GuoJie Zhang

Published in: Molecular genetics & genomic medicine (2020)

We revealed a novel mutation in PAX3 and a de novo mutation in SOX10, which might account for the underlying pathogenesis of WS. This study expands the database of both PAX10 and PAX3 mutations and improves our understanding of the causes of WS.

Keyphrases

stem cells
transcription factor
emergency department
gene expression
copy number
drug induced