Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications-Reference-Cited by-同舟云学术

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Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Published:2020-12 Issue:6 Volume:24 Page:352.e1-352.e5
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Moravikova Jana,Honzik Tomas,Jadvidzakova Eva,Zdrahalova Katerina,Kremlikova Pourova Radka,Korbasova Marta,Liskova Petra,Dudakova Lubica

Funder

Ministry of Health of the Czech Republic

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”);Girelli;Blood,1995

2. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract;Beaumont;Nat Genet,1995

3. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder;Millonig;Hum Genomics,2010

4. Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations;Craig;Arch Ophthalmol,2003

5. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome;Brooks;Invest Ophthalmol Vis Sci,2002

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Aging of the eye: Lessons from cataracts and age-related macular degeneration;Ageing Research Reviews;2024-08

2. Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families;International Journal of Molecular Sciences;2023-07-25

3. Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease—Report of New Cases;International Journal of Molecular Sciences;2021-05-21

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