The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

• Autori principali: Katia Perruccio (Autore), Francesco Arcioni (Autore), Carla Cerri (Autore), Roberta La Starza (Autore), Donatella Romanelli (Autore), Ilaria Capolsini (Autore), Maurizio Caniglia (Autore)
• Natura: Libro
• Pubblicazione: Hindawi Limited, 2013-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...