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

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 disorder of...

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Detalles Bibliográficos
Autores principales: Starosta, Rodrigo Tzovenos, Kerashvili, Nino, Pruitt, Cassandra, Schultz, Matthew J., Boyer, Suzanne W., Morava, Eva, Lasio, Maria Laura Duque, Grange, Dorothy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2023
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623102/
https://www.ncbi.nlm.nih.gov/pubmed/37927489
http://dx.doi.org/10.1002/jmd2.12396

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