Associated Papers
Clinical and Molecular Clues to Diagnosing Hereditary Hyperferritinemia-Cataract Syndrome: Case Report and Literature Review.
Ludikova B et al.
Genes, 2025
Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.
Hemanna A et al.
Cureus, 2025
Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.
Fox JC et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2024
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
Yang Y et al.
Hematology (amsterdam, Netherlands), 2021
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F et al.
International Journal of Molecular Sciences, 2021
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.
Moravikova J et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2020
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.
Muñoz-Muñoz J et al.
Clinical Genetics, 2013
[Hyperferritinemia, ferropenia and metabolic syndrome in a patient with a new mutation of gene TFR2 and another in gene FTL. A family study].
Del Castillo-Rueda A et al.
Medicina Clinica, 2011
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J et al.
European Journal of Pediatrics, 2010
Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.
Millonig G et al.
Human Genomics, 2010
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
Yazar S et al.
Ophthalmic Genetics, 0
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