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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Detalles Bibliográficos
Autores principales: Yin, Dan, Kulhalli, Vasu, Walker, Ann P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Clinical Observations in Hepatology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296220/
https://www.ncbi.nlm.nih.gov/pubmed/24003015
http://dx.doi.org/10.1002/hep.26681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296220/
https://www.ncbi.nlm.nih.gov/pubmed/24003015
http://dx.doi.org/10.1002/hep.26681

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