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
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