Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of theFTLgene-Reference-Cited by-同舟云学术

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of theFTLgene

Published:2012-08-13 Issue:5 Volume:83 Page:491-493
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Muñoz-Muñoz J¹,Cuadrado-Grande N²,Moreno-Carralero M-I²,Hoyos-Sanabria B³,Manubes-Guarch A⁴,González A-F⁴,Tejada-Palacios P⁵,del-Castillo-Rueda A⁶,Morán-Jiménez M-J²

Affiliation:

1. Servicio de Hematología; Hospital Universitario Puerta del Mar; Cádiz; Spain

2. Centro de Investigación; Instituto de Investigación del Hospital 12 de Octubre; Madrid; Spain

3. Servicio de Oftalmología; Hospital Universitario Puerta del Mar; Cádiz; Spain

4. Servicio de Hematología; Hospital Clínico Universitario San Carlos; Madrid; Spain

5. Servicio de Oftalmología; Hospital Universitario 12 de Octubre; Madrid; Spain

6. Unidad de Ferropatología; Hospital General Universitario Gregorio Marañón; Madrid; Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2012.01934.x/fullpdf

Reference8 articles.

1. Role of ferritin and ferroportin genes in unexplained hyperferritinaemia;Cazzola;Best Pract Res Clin Haematol,2005

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

3. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin;Mumford;Br J Ophthalmol,2000

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

5. Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome;Lachlan;Eur J Hum Genet,2004

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1. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review;Hematology;2021-01-01

2. Contributions of Promoter Variants to Complex Eye Diseases;Essentials in Ophthalmology;2021

3. Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee;Case Reports in Hematology;2020-05-26

4. Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome;Ophthalmic Genetics;2016-04-20

5. Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family;Ophthalmic Genetics;2016-02-05