Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.

Liling DongLi ShangCaiyan LiuChenhui MaoXinying HuangShanshan ChuBin PengLiying CuiJing Gao

Published 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.

Keyphrases

white matter
genome wide
multiple sclerosis
single cell
copy number
healthcare
high resolution
dna methylation
mass spectrometry
childhood cancer