Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families
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 gen...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2025-12-01
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| Series: | Annals of Medicine |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2024.2447400 |
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