Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review
Abstract Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase. These mutations disrupt normal heme synthesis, leading to the accumulation of protoporphyrin in erythrocytes and other tissues. Clinical...
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| Huvudupphov: | , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
BMC
2025-07-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Ämnen: | |
| Länkar: | https://doi.org/10.1186/s13023-025-03860-8 |
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