TUBB3 E410K syndrome with childhood-onset non-alcoholic steatohepatitis.
Jun MoriAtsushi UmemuraWataru SatakePei-Chieng ChaYutaka SuzukiKyoko ItohTomohiro ChiyonobuPublished in: The Journal of clinical endocrinology and metabolism (2021)
We report the first case of TUBB3 E410K syndrome accompanied with NASH. This case suggests that TUBB3 mutation may be associated with the pathogenesis and progression of NASH in humans.