A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

Glycosylphosphatidylinositol biosynthesis defect 15 is a rare autosomal recessive disorder due to biallelic loss of function of GPAA1. At the moment, less than twenty patients have been reported, usually compound heterozygous for GPAA1 variants. The main clinical features are intellectual disability...

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Detalles Bibliográficos
Autores principales: Fontana, Paolo, Budillon, Alberto, Simeone, Domenico, Del Vecchio Blanco, Francesca, Caiazza, Martina, D’Amico, Alessandra, Lonardo, Fortunato, Nigro, Vincenzo, Limongelli, Giuseppe, Scarano, Gioacchino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379968/
https://www.ncbi.nlm.nih.gov/pubmed/37510348
http://dx.doi.org/10.3390/genes14071444

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379968/
https://www.ncbi.nlm.nih.gov/pubmed/37510348
http://dx.doi.org/10.3390/genes14071444

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