Literature DB >> 18710380

A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity.

Luz Gonzalez-Huerta, Veronica Ramirez-Sanchez, Maria Rivera-Vega, Olga Messina-Baas, Sergio Cuevas-Covarrubias.   

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Year:  2008        PMID： 18710380     DOI： 10.1111/j.1365-2141.2008.07345.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  4 in total

1.  The hereditary hyperferritinemia-cataract syndrome: a family study.

Authors:  Javier Álvarez-Coca-González; María-Isabel Moreno-Carralero; Jorge Martínez-Pérez; Manuel Méndez; Marta García-Ros; María-Josefa Morán-Jiménez
Journal:  Eur J Pediatr       Date:  2010-07-09       Impact factor: 3.183

2.  Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Authors:  Linda M Reis; Rebecca C Tyler; Sanaa Muheisen; Victor Raggio; Leonardo Salviati; Dennis P Han; Deborah Costakos; Hagith Yonath; Sarah Hall; Patricia Power; Elena V Semina
Journal:  Hum Genet       Date:  2013-03-19       Impact factor: 4.132

Review 3.  Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Authors:  Gunda Millonig; Martina U Muckenthaler; Sebastian Mueller
Journal:  Hum Genomics       Date:  2010-04       Impact factor: 4.639

Review 4.  Genetic Disorders Associated with Metal Metabolism.

Authors:  Muhammad Umair; Majid Alfadhel
Journal:  Cells       Date:  2019-12-09       Impact factor: 6.600
  4 in total

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