Associated Papers
Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report.
Li W et al.
Translational Pediatrics, 2023
Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia.
Zhang L et al.
Frontiers in Genetics, 2020
Select a paper to view details