Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

by Satoru Takahashi, Ryo Takeguchi, Mami Kuroda, Ryosuke Tanaka
Published 2020-03-01

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

by Yuichi Akaba, Satoru Takahashi, Ryo Takeguchi, Ryosuke Tanaka, Shin Nabatame, Hirotomo Saitsu, Naomichi Matsumoto
Published 2021-03-01

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome

by Ryo Takeguchi, Satoru Takahashi, Mami Kuroda, Ryosuke Tanaka, Nao Suzuki, Yuko Tomonoh, Yukiko Ihara, Nobuyoshi Sugiyama, Masayuki Itoh
Published 2020-02-01