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Brazilian family with hyperferritinemia-cataract syndrome: case report

ABSTRACT 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 f...

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Autori principali: Aline Morgan Alvarenga, Nathália Kozikas da Silva, Rodolfo Delfini Cançado, Luís Eduardo Morato Rebouças de Carvalho, Paulo Caleb Junior Lima Santos
Natura: Artigo
Lingua:Inglês
Pubblicazione: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2022-10-01
Serie:Einstein (São Paulo)
Soggetti:
Ferritins
Cataract
Hyperferritinemia
Mutation
Iron overload
Iron metabolism disorders
Accesso online:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082022000100519&tlng=en
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