PIGG

Publications

Makrythanasis P et al. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet. 2016;98(4):615-26. PMID: 26996948.

Zhao JJ et al. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. Hum Mutat. 2017;38(10):1394-1401. PMID: 28581210.

Lionel AC et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018;20(4):435-443. PMID: 28771251.

Parsamanesh N et al. Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability. J Mol Neurosci. 2019;69(4):538-545. PMID: 31414351.

Duval R et al. Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood. 2021;137(26):3660-3669. PMID: 33763700.

Tremblay-Laganière C et al. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Genet Med. 2021;23(10):1873-1881 doi: 10.1038/s41436-021-01215-9. PMID: 34113002.