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Paper Details

PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
3
2021
CD73, DD, GPI, GPI-AP, GPI-APs, ID, IGD, IGDs, PIGG, PIGG deficiency, PIGG variants, PIGG/, PIGO, Phosphatidylinositol, autism spectrum disorder, biallelic, cerebellar atrophy, developmental delay, ethanolamine, ethanolamine phosphate transferase, fibroblasts, granulocytes, hypotonia, inherited GPI deficiency, intellectual disability, mitochondrial dysfunction, phosphate, seizures
Author NameAffiliation
Rebecca TrutyInvitae Corporation
Julie S CohenKennedy Krieger Institute
Julie S CohenJohns Hopkins University School of Medicine
Andrew C EdmondsonChildren's Hospital of Philadelphia
Sian EllardRoyal Devon and Exeter NHS Foundation Trust
Sian EllardInstitute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter
Stylianos E AntonarakisUniversity of Geneva Medical School
Henry HouldenUCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery
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