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
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
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
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Lam C et al.
Molecular Genetics and Metabolism, 0
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