A Likely Pathogenic Variant Putatively Affecting Splicing of PIGA Identified in a Multiple Congenital Anomalies Hypotonia‐seizures Syndrome 2 (MCAHS2) Family Pedigree Via Whole‐exome Sequencing
Molecular Genetics & Genomic Medicine（2018）
Key words
glycosylphosphatidylinositol,GPI,IGD,inherited GPI deficiency,MCAHS2,multiple congenital anomalies hypotonia-seizures syndrome 2,phosphatidylinositol glycan anchor biosynthesis class A,PIGA,PIGA deficiency,splicing defect,WES,whole-exome sequencing
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