Associated Papers
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X et al.
Molecular Biology Reports, 2022
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A et al.
Epilepsia, 2020
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins.
Xie LL et al.
Brain & Development, 2018
Select a paper to view details