A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II

ConclusionA novel frameshift mutation inSOX10 gene was identified in this study, which may be the cause of WS2 in proband. In addition,FGFR3,SOX2, andPAX3 might also participate in promoting the progression of WS2.

Source: Molecular Genetics & Genomic Medicine - February 29, 2024 Category: Genetics & Stem Cells Authors: Xiuli Ma, Liping Zhao, Li Li, Xia Li, Chaohong Ding, Jing Ma Tags: ORIGINAL ARTICLE Source Type: research