Associated Papers
Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.
Zhao ZX et al.
Clinical Genetics, 2025
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
36363484 (PubMed )
Supplement: medicina-58-01526-s001.zip › Supplementary_table_1_Clinical_features.xlsx › Clinical_features
PIGN encephalopathy: Characterizing the epileptology.
Bayat A et al.
Epilepsia, 2022
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › LOF
Select a paper to view details