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Article

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.

Molecular genetics & genomic medicine - 1 Jan 2024

Su Ling, Peng Min-Zhi, Chen Xiao-Dan, Wu Shuang, Liu Li

Abstract excerpt

BACKGROUND: Peroxisome biogenesis disorders (PBDs) are caused by variants in PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the most severe and common subtype of PBDs, affecting multiple organ systems due to peroxisomal involvement in various metabolic functions. PEX13 gene variants are rare causes of ZSDs, with only 21 cases reported worldwide and none in China. METHODS: We...

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Identifiers

PMID: 37962062
DOI: 10.1002/mgg3.2315
PMCID: PMC10767603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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