Rett Syndrome
Type
Collection
...severity in Rett syndrome. J Med Genet . 51, 152–158. (Link opens in a new window) PMID: 24399845 Guy ... missense and nonsense mutations (R106W, R133C, T158M, R168X, R255X, R270X, R294X, and R306C) account ... patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of...