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Article

Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype-Phenotype Correlations.

Human mutation - 1 Jan 2026

Su Song, Hu Wandong, Ren Ying, Zhang Tong, Yu Chunmei, Zhang Hongwei

Abstract excerpt

Background: The ALG13 gene is implicated in congenital disorders of glycosylation (CDG) and developmental and epileptic encephalopathy (DEE), yet genotype-phenotype correlations remain incompletely understood. Methods: Whole-exome sequencing (WES) was performed in unrelated families, and we systematically reviewed existing patient data on ALG13 variants and investigated the expression patterns of ALG13 using...

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Identifiers

PMID: 42516310
DOI: 10.1155/humu/6800099
PMCID: PMC13402893

Genes

ALG13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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