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
Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.
Crenshaw MM et al.
American Journal of Medical Genetics. Part A, 2023
Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon.
Salinas-Marín R et al.
Frontiers in Genetics, 2022
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A et al.
Epilepsy Research, 2021
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A et al.
Epilepsia, 2020
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