Shi-Qi Xiao Mei-Hui Li Yi-Lin Meng Chuang Li Hai-Long Huang Cai-Xia Liu Yuan Lyu Quan Na
10.3389/fgene.2020.594078
Front Genet
2020 Oct 27;11:594078.
pign glycosylphosphatidylinositol-anchor biosynthesis pathway multiple congenital anomalies-hypotonia-seizures syndrome 1 prenatal diagnosis reproduction guidance
CC BY
https://pubmed.ncbi.nlm.nih.gov/33193741/
PMC7652820
33193741
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N ( PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1
2020