Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

por Keiko Shimojima Yamamoto, Tomoe Yanagishita, Hisako Yamamoto, Yusaku Miyamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Yasushi Sakata, Toshiyuki Yamamoto
Publicado 2021