Dyskeratosis Congenita

Known as: DKC, Dyskeratosis Congenita [Disease/Finding], congenita dyskeratosis 
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous… (More)
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short… (More)
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Highly Cited
2010
Highly Cited
2010
Patients with dyskeratosis congenita (DC), a disorder of telomere maintenance, suffer degeneration of multiple tissues. Patient… (More)
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Review
2009
Review
2009
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome. The spectrum of cancer susceptibility in this… (More)
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Highly Cited
2008
Highly Cited
2008
Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere… (More)
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Highly Cited
2008
Highly Cited
2008
Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities… (More)
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Highly Cited
2006
Highly Cited
2006
The DKC1 gene encodes a pseudouridine synthase that modifies ribosomal RNA (rRNA). DKC1 is mutated in people with X-linked… (More)
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Highly Cited
2005
Highly Cited
2005
Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from… (More)
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Highly Cited
2001
Highly Cited
2001
Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation… (More)
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Highly Cited
1999
Highly Cited
1999
The X-linked form of the human disease dyskeratosis congenita (DKC) is caused by mutations in the gene encoding dyskerin… (More)
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Highly Cited
1998
Highly Cited
1998
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening… (More)
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