A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
Sachiko MiyamotoMitsuko NakashimaTsukasa OhashiTakuya HiraideKenji KurosawaToshiyuki YamamotoJunichi TakanashiHitoshi OsakaKen InoueTakehiro MiyazakiYoshinao WadaNobuhiko OkamotoHirotomo SaitsuPublished in: Molecular genetics & genomic medicine (2019)
This case would expand the phenotypic spectrum of SLC35A2-related disorders to delayed myelination with spasticity and no seizures.