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...

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Detalles Bibliográficos
Autores principales: Millonig, Gunda, Muckenthaler, Martina U, Mueller, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Review
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

Internet

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

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