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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Bibliographic Details
Main Authors: Katia Perruccio, Francesco Arcioni, Carla Cerri, Roberta La Starza, Donatella Romanelli, Ilaria Capolsini, Maurizio Caniglia
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2013/806034
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