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

Michelle C. do Rosario, Parneet Kaur, Katta Mohan Girisha, Stephanie Bielas, Anju Shukla

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)196-200
Number of pages5
JournalClinical Dysmorphology
Issue number4
Publication statusPublished - 01-10-2022

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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