Hereditary hyperferritinemia and cataract syndrome: A de novo mutation;Síndrome hereditario de hiperferritinemia y cataratas: Mutación de novo

Anales de Pediatria

Volumn 68, Issue 4, 2008, Pages 408-410

  Hernandez Martin D ^a   Cervera Bravo, A ^a   Balas Perez A ^b  

^a HOSPITAL DE MÓSTOLES   (Spain)

^b Centro de Transfusion   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON;

CASE REPORT; CATARACT; CHILD; CONSULTATION; GENETIC ANALYSIS; HUMAN; HYPERFERRITINEMIA; IRON TRANSPORT; LETTER; MALE; MUTATION; NEGATIVE FEEDBACK; OPHTHALMOLOGY;

EID: 42149181802     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1157/13117721     Document Type: Letter

References (9)

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2. Bonneau D, Winter-Fuseau I, Loiseau MN, Amati P, Berthier M, Oriot D, et al. Bilateral cataract and high serum ferritin: A new dominant genetic disorder? J Med Genet. 1995;32:778-9.
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7. Pérez de Nanclares G, Castaño L, Martul P, Rica I, Vela A, Sanjurjo P, et al. Molecular analysis of hereditary hyperferritinemia cataract syndrome in a large Basque family. J Pediatr Encodrinol Metab. 2000;14:295-300.
8. Ladero JM, Balas A, García-Sánchez F, Vicario JL, Díaz-Rubio M. Síndrome hereditario de hiperferritinemia y cataratas. Descripción de una nueva familia en España. Rev Esp Enf Digest. 2004;96:507-11.
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