Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian...

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Detalles Bibliográficos
Autores principales: Zin, Olivia A., Neves, Luiza M., Cunha, Daniela P., Motta, Fabiana L., Agonigi, Bruna N. S., Horovitz, Dafne D. G., Almeida, Daltro C., Malacarne, Jocieli, Rodrigues, Ana Paula S., Carvalho, Adriana B., Rivello, Cinthia A., Espariz, Rita, Zin, Andrea A., Sallum, Juliana M. F., Vasconcelos, Zilton F. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419074/
https://www.ncbi.nlm.nih.gov/pubmed/37569253
http://dx.doi.org/10.3390/ijms241511876

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