PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

Abstract The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins. Bi‐allelic pathogenic variants in PIGO lead to a congenital di...

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Bibliographic Details
Main Authors: Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:JIMD Reports
Subjects:
congenital disorder of glycosylation
diarrhea
glycophosphatidylinositol
hyperphosphatasia
hypoglycemia
Mabry syndrome
Online Access:https://doi.org/10.1002/jmd2.12396

Internet

https://doi.org/10.1002/jmd2.12396

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