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Article

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.

Clinical genetics - 1 May 2013

Muñoz-Muñoz J, Cuadrado-Grande N, Moreno-Carralero M-I, Hoyos-Sanabria B, Manubes-Guarch A, González A-F, Tejada-Palacios P, Del-Castillo-Rueda A, Morán-Jiménez M-J

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22881709
DOI: 10.1111/j.1399-0004.2012.01934.x

Genes

FTL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.PMID 22881709Read ↗

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FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.Semantic proximity Read ↗

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.Semantic proximity Read ↗

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[Molecular genetics of hereditary cataract-hyperferritinemia syndrome].Semantic proximity Read ↗

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Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia.Semantic proximity Read ↗

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Pathogenesis of Hyperferritinemia Cataract SyndromeSemantic proximity Read ↗

A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.Semantic proximity Read ↗

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