Article
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.
Annals of medicine - 1 Dec 2025
Alayoubi Abdulfatah M, Ijaz Ambreen, Wali Abdul, Hashmi Jamil A, Alharbi Azizah, Basit Sulman
Abstract excerpt
BACKGROUND: Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts. PBDs are associated with mutations in any of fourteen different PEX genes, which are involved in peroxisome biogenesis. Zellweger spectrum disorder (ZSD) is a severe form of PBD. More...
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