The Hereditary Hyperferritinemia-Cataract Syndrome in 2 Italian Families

• Hoofdauteurs: Katia Perruccio (Auteur), Francesco Arcioni (Auteur), Carla Cerri (Auteur), Roberta La Starza (Auteur), Donatella Romanelli (Auteur), Ilaria Capolsini (Auteur), Maurizio Caniglia (Auteur)
• Formaat: Boek
• Gepubliceerd in: Hindawi Limited, 2013-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...