Associated Papers
A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
Klangjorhor J et al.
International Journal of Molecular Sciences, 2025
Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.
Ranjan A et al.
Cureus, 2024
Allogeneic stem cell transplantation-A curative treatment for paroxysmal nocturnal hemoglobinuria with PIGT mutation: A case report.
Schenone L et al.
World Journal of Clinical Cases, 2022
Rare genetic causes of meningitis and encephalitis.
Moon J
Encephalitis (seoul, Korea), 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia.
Hur YJ et al.
Annals of Clinical and Laboratory Science, 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
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.
Höchsmann B et al.
The Journal of Clinical Investigation, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Recurrent aseptic meningitis with PIGT mutations: a novel pathogenesis of recurrent meningitis successfully treated by eculizumab.
Kawamoto M et al.
Bmj Case Reports, 2018
Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
Kohashi K et al.
Brain & Development, 2018
Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.
Yang L et al.
Frontiers in Genetics, 2018
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
Skauli N et al.
Genes, 2016
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
Nakashima M et al.
Neurogenetics, 2014
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