The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

Two 8- and 9-year-old brothers were referred to the Pediatric Oncology Unit, Perugia General Hospital, because of hyperferritinemia. Both had a history of bilateral cataract and epilepsy. Genetic investigation revealed two distinct mutations in iron haemostasis genes; homozygosity for the HFE gene H...

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Dettagli Bibliografici
Autori principali: Perruccio, Katia, Arcioni, Francesco, Cerri, Carla, La Starza, Roberta, Romanelli, Donatella, Capolsini, Ilaria, Caniglia, Maurizio
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2013
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3867874/
https://ncbi.nlm.nih.gov/pubmed/24368960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/806034
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