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Article

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.

Archives of Iranian medicine - 1 Jul 2025

Alagha Parnian, Akhtarkhavari Tara, Shokouhian Ebrahim, Ghodratpour Fatemeh, Arzhangi Sanaz, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

BACKGROUND: PMM2-CDG, also known as congenital disorder of glycosylation type 1a, is the most common N-linked glycosylation disorder, characterized by a wide range of neurological and multisystem manifestations. Understanding the genotype-phenotype correlations is essential for accurate diagnosis and patient management. This study aims to identify the genetic cause of PMM2-CDG in an Iranian family with multiple...

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Share to Congenital Disorders of Glycosylation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40886090
DOI: 10.34172/aim.34187
PMCID: PMC12435617

Genes

PMM2

Variants

Provenance

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