A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

ConclusionThis case would expand the phenotypic spectrum ofSLC35A2‐related disorders to delayed myelination with spasticity and no seizures.

Source: Molecular Genetics & Genomic Medicine - June 22, 2019 Category: Genetics & Stem Cells Authors: Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu Tags: CLINICAL REPORT Source Type: research