Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination

Authors :: Michelle C. do Rosario
Parneet Kaur
Katta Mohan Girisha
Stephanie Bielas
Anju Shukla
Source :: Clinical dysmorphology. 31(4)
Publication Year :: 2023

Subjects :: Glycosylphosphatidylinositols
Pediatrics, Perinatology and Child Health
Homozygote
Mutation
Humans
Membrane Proteins
Epilepsy, Generalized
General Medicine
Anatomy
Genetics (clinical)
Pathology and Forensic Medicine

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