Literature DB >> 23094712

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation.

Mary Gleeson1, Aengus O'Marcaigh, Melanie Cotter, Donal Brosnahan, Tom Vulliamy, Owen P Smith.   

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Year:  2012        PMID： 23094712     DOI： 10.1111/bjh.12088

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


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  4 in total

Review 1.  Genetics of human telomere biology disorders.

Authors:  Patrick Revy; Caroline Kannengiesser; Alison A Bertuch
Journal:  Nat Rev Genet       Date:  2022-09-23       Impact factor: 59.581

2.  Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report.

Authors:  Xiao-Yu Zheng; Jia Xu; Wei Li; Si-Si Li; Cai-Ping Shi; Zheng-Yan Zhao; Jian-Hua Mao; Xi Chen
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889

3.  Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy.

Authors:  Mamika Asano; Shoko Tsukamoto; Koh-Hei Sonoda; Hiroyuki Kondo
Journal:  Am J Ophthalmol Case Rep       Date:  2021-06-16

Review 4.  Cell biology of disease: Telomeropathies: an emerging spectrum disorder.

Authors:  Brody Holohan; Woodring E Wright; Jerry W Shay
Journal:  J Cell Biol       Date:  2014-05-12       Impact factor: 10.539
  4 in total

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