Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus with Hypotonia-Seizures Syndrome 1
Frontiers in Genetics（2020）
关键词
PIGN,multiple congenital anomalies-hypotonia-seizures syndrome 1,reproduction guidance,prenatal diagnosis,glycosylphosphatidylinositol-anchor biosynthesis pathway
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