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Article

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.

Molecular genetics and metabolism - 1 Nov 2023

Altassan Ruqaiah, Allers Michael M, De Graef Diederik, Shah Rameen, de Vries Maaike, Larson Austin, Glamuzina Emma, Morava Eva

Abstract excerpt

Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia. Here, we summarized the phenotype of sixty-five individuals including six unreported individuals from our CDG natural history study...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37647829
DOI: 10.1016/j.ymgme.2023.107688
PMCID: PMC10872732

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