Mutations of <i><scp>MYH14</scp></i> are associated to anorectal malformations with recto‐perineal fistulas in a small subset of Chinese population

Abstract

This is the first identification of mutations in MYH14 as a cause of ARMs. The stronger localization of NMHC IIC in E11.5-13.5 mouse cloacal regions further supports the role of MYH14 in anorectal development.