Associated Papers
Glycosylphosphatidylinositol Biosynthesis Defect Due To Novel Biallelic Pathogenic Variants in PIGW.
Rabouhi N et al.
Pediatric Neurology, 2025
Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants.
Chen X et al.
Prenatal Diagnosis, 2025
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.
Feresin A et al.
Biomolecules, 2024
Clinical utility of exome sequencing in a pediatric epilepsy cohort.
Graifman JL et al.
Epilepsia, 2023
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
Ronzoni L et al.
Prenatal Diagnosis, 2022
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
Peron A et al.
American Journal of Medical Genetics. Part A, 2020
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N et al.
European Journal of Human Genetics : Ejhg, 2019
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