Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder is produced by mutations in the iron responsive element (IRE) located in the 5′ untranslated reg...

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Bibliographic Details
Main Authors: Ferran Celma Nos, Gonzalo Hernández, Xènia Ferrer-Cortès, Ines Hernandez-Rodriguez, Begoña Navarro-Almenzar, José Luis Fuster, Mar Bermúdez Cortés, Santiago Pérez-Montero, Cristian Tornador, Mayka Sanchez
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
hereditary hyperferritinemia cataract syndrome
HHCS
serum ferritin
<i>FTL</i> gene
cataracts
hyperferritinemia
Online Access:https://www.mdpi.com/1422-0067/22/11/5451

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https://www.mdpi.com/1422-0067/22/11/5451

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