Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.
Journal Information
Full Title: Mol Genet Genomic Med
Abbreviation: Mol Genet Genomic Med
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTEREST STATEMENT The authors declare that they have no conflict of interest."
"FUNDING INFORMATION This work was supported by Guangzhou Municipal health commission‐Clinical special technology project (2023C‐TS60); Plan on enhancing scientific research in GMU (02‐410‐2302144XM); the Research Foundation of Pediatrics College in Guangzhou Medical University (2022ekky007)."
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Last Updated: Aug 05, 2025