Brazilian family with hyperferritinemia-cataract syndrome: case report

Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin l...

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Detalles Bibliográficos
Autores principales: Alvarenga, Aline Morgan, da Silva, Nathália Kozikas, Cançado, Rodolfo Delfini, de Carvalho, Luís Eduardo Morato Rebouças, Santos, Paulo Caleb Junior Lima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586555/
https://www.ncbi.nlm.nih.gov/pubmed/36287435
http://dx.doi.org/10.31744/einstein_journal/2022RC0076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9586555/
https://www.ncbi.nlm.nih.gov/pubmed/36287435
http://dx.doi.org/10.31744/einstein_journal/2022RC0076

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