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
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
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Khayat M et al.
American Journal of Medical Genetics. Part A, 2016
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
Ohba C et al.
Neurogenetics, 2014
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