Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia (usually ferritin >1,000 ng/mL) without tissue iron overload, with or without early-onset slow-progressing bilateral nuclear cataract. It was first identified as a new g...

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Detalles Bibliográficos
Autores principales: Eris, Tansu, Yanik, Ahmet Mert, Demirtas, Derya, Yilmaz, Asu Fergun, Toptas, Tayfur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105638/
https://www.ncbi.nlm.nih.gov/pubmed/37069863
http://dx.doi.org/10.7759/cureus.36253

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10105638/
https://www.ncbi.nlm.nih.gov/pubmed/37069863
http://dx.doi.org/10.7759/cureus.36253

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