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  • Dyskeratosis congenita
  • Telomere
  • Telomerase
  • Dyskerin
  • TERC
  • TERT
  • NOP10
  • NHP2
  • Shelterin
  • TIN2
  • 5q minus syndrome
  • Anemia (Diamond Blackfan)
  • Cartilage hair hypoplasia
  • Ribosome
  • Shwachman Diamond syndrome
  • Treacher Collins syndrome
  • RPS19
  • RPS14
  • TINF2
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    Citation
    12007Dysfunctional telomeres and dyskeratosis congenita.



    +-nlHaematologica 92(8):1009-12 (2007) Bessler M
    21975Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.



    +-nlJ Med Genet 12(4):339-54 (1975)
    32009Dyskeratosis congenita, stem cells and telomeres.



    +-nlBiochim Biophys Acta 1792(4):371-9 (2009)
    42010Ribosomopathies: human disorders of ribosome dysfunction.



    +-nlBlood 115(16):3196-205 (2010)
    52009Cancer in dyskeratosis congenita.



    +-nlBlood 113(26):6549-57 (2009)
    62011Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.



    +-nlPLoS One 6(9):e24383 (2011)
    72007Dyskeratosis congenita. Report of a case with literature review.



    +-nlMed Oral Patol Oral Cir Bucal 12(5):E369-73 (2007)



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