Associated Papers
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
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
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
35887114 (PubMed )
Supplement: ijms-23-07764-s001.zip › Supplementary_Table_S1.xlsx › General
PIGN encephalopathy: Characterizing the epileptology.
Bayat A et al.
Epilepsia, 2022
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM et al.
Human Mutation, 2016
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