Literature DB >> 21649874

Age-dependent ocular phenotype in hereditary hyperferritinaemia cataract syndrome (HHCS).

Elise Platteau, Kristien Hoornaert, Koen Moens, Bart P Leroy.   

Abstract

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Year:  2011        PMID： 21649874     DOI： 10.1111/j.1755-3768.2011.02142.x

Source DB:  PubMed          Journal:  Acta Ophthalmol        ISSN： 1755-375X            Impact factor:   3.761


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  2 in total

1.  Clinical characteristics of comorbid retinal dystrophies and primary angle closure disease.

Authors:  Deepika C Parameswarappa; Mariya Bashir Doctor; Ramya Natarajan; Padmaja Kumari Rani; Chandrasekhar Garudadri; Subhadra Jalali; Sirisha Senthil
Journal:  Int Ophthalmol       Date:  2022-05-18       Impact factor: 2.029

2.  Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.

Authors:  Stijn Van de Sompele; Lucie Pécheux; Jorge Couso; Audrey Meunier; Mayka Sanchez; Elfride De Baere
Journal:  Sci Rep       Date:  2017-12-21       Impact factor: 4.379
  2 in total

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