Associated Papers
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E et al.
Medicina (kaunas, Lithuania), 2022
36363484 (PubMed )
Supplement: medicina-58-01526-s001.zip › Supplementary_table_1_Clinical_features.xlsx › Clinical_features
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
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1.
Xiao SQ et al.
Frontiers in Genetics, 2020
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM et al.
Human Mutation, 2016
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L et al.
American Journal of Medical Genetics. Part A, 2016
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2015
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