A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.

Ya TanLing DuanKai YangQian LiuJing WangZhe DongZhi LiYiwen HeYousheng YanLi Lin

Published in: Journal of clinical laboratory analysis (2020)

This study substantiates that SON: c.5230delC (p.Arg1744ValfsTer29) is a pathogenic variant of Zhu-Tokita-Takenouchi-Kim syndrome and it is the first time to report Zhu-Tokita-Takenouchi-Kim syndrome in China.

Keyphrases

case report