Associated Papers
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.
do Rosario MC et al.
Clinical Dysmorphology, 2022
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Tremblay-Laganière C et al.
Clinical Genetics, 2021
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
Pagnamenta AT et al.
Human Mutation, 2018
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