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Raised Serum Ferritin Concentration in Hereditary Hyperferritinemia Cataract Syndrome Is Not a Marker for Iron Overload
Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS wh...
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| Veröffentlicht in: | Hepatology |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BlackWell Publishing Ltd
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4296220/ https://ncbi.nlm.nih.gov/pubmed/24003015 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.26681 |
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