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Dyskeratosis congenita
LE WE PMID CA
Dyskeratosis congenita741Dyskeratosis congenita

5q minus syndrome

Anemia (Diamond Blackfan)

Cartilage hair hypoplasia

Dyskeratosis congenita

Dyskerin

NHP2

NOP10

Ribosome

RPS14

RPS19

Shelterin

Shwachman Diamond syndrome

Telomerase

Telomere

TERC

TERT

TIN2

TINF2

Treacher Collins syndrome

2007  
1
Dysfunctional telomeres and dyskeratosis congenita.
[17650438] Haematologica 92(8): 1009-12 (2007)
1975  
2
Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.
[768476] J Med Genet 12(4): 339-54 (1975)
2009  
3
Dyskeratosis congenita, stem cells and telomeres.
[19419704] Biochim Biophys Acta 1792(4): 371-9 (2009)
2010  
4
Ribosomopathies: human disorders of ribosome dysfunction.
[20194897] Blood 115(16): 3196-205 (2010)
2009  
5
Cancer in dyskeratosis congenita.
[19282459] Blood 113(26): 6549-57 (2009)
2011  
6
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
[21931702] PLoS One 6(9): e24383 (2011)
2007  
7
Dyskeratosis congenita. Report of a case with literature review.
[17767101] Med Oral Patol Oral Cir Bucal 12(5): E369-73 (2007)
2009  
8
Telomere dysfunction in human diseases: the long and short of it!
[19636400] Int J Clin Exp Pathol 2(6): 528-43 (2009)

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