Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Liling DongLi ShangCaiyan LiuChenhui MaoXinying HuangShanshan ChuBin PengLiying CuiJing GaoPublished in: Italian journal of pediatrics (2023)
There is genotypic and phenotypic heterogeneity among Chinese subjects with pediatric genetic white matter disorders. The knowledge of these clinical and genetic characteristics facilitates an accurate diagnosis of these diseases.