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Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder
The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by m...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525215/ https://www.ncbi.nlm.nih.gov/pubmed/20511138 http://dx.doi.org/10.1186/1479-7364-4-4-250 |