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Literature DB >> 7712648

Dyskeratosis congenita.

Abstract

Dyskeratosis congenita is a rare genodermatosis. Malignant deterioration and hematologic complications are well-described features of this syndrome. Correct recognition is essential for proper management. A review of diagnostic considerations and treatment guidelines is presented.

Entities: Disease

Mesh：

Year: 1995 PMID： 7712648

Source DB: PubMed Journal: Dermatol Clin ISSN： 0733-8635 Impact factor: 3.478

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Cited

13 in total

1. A boy with breathlessness, digital clubbing and central cyanosis.

Authors: Sanne J Gordijn; Paul L P Brand
Journal: Eur J Pediatr Date: 2003-12-03 Impact factor: 3.183

Review 2. Genetic interstitial lung disease.

Authors: Megan Stuebner Devine; Christine Kim Garcia
Journal: Clin Chest Med Date: 2011-12-06 Impact factor: 2.878

Review 3. The genetics of dyskeratosis congenita.

Authors: Philip J Mason; Monica Bessler
Journal: Cancer Genet Date: 2011-12

Review 4. Dyskeratosis congenita: a disorder of defective telomere maintenance?

Authors: Amanda J Walne; Anna Marrone; Inderjeet Dokal
Journal: Int J Hematol Date: 2005-10 Impact factor: 2.490

Review 5. The inherited bone marrow failure syndromes.

Authors: S Deborah Chirnomas; Gary M Kupfer
Journal: Pediatr Clin North Am Date: 2013-12 Impact factor: 3.278

6. Variable expression of Dkc1 mutations in mice.

Authors: Jun He; Bai-Wei Gu; Jingping Ge; Yuko Mochizuki; Monica Bessler; Philip J Mason
Journal: Genesis Date: 2009-06 Impact factor: 2.487

7. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Authors: Tom Vulliamy; Richard Beswick; Michael Kirwan; Anna Marrone; Martin Digweed; Amanda Walne; Inderjeet Dokal
Journal: Proc Natl Acad Sci U S A Date: 2008-06-03 Impact factor: 11.205

Review 8. Advances in the understanding of dyskeratosis congenita.

Authors: Amanda J Walne; Inderjeet Dokal
Journal: Br J Haematol Date: 2009-02-04 Impact factor: 6.998

9. Telomerase dysfunction and dyskeratosis congenita.

Authors: Amanda J Walne; Inderjeet Dokal
Journal: Cytotechnology Date: 2004-06 Impact factor: 2.058

Review 10. Human diseases of telomerase dysfunction: insights into tissue aging.

Authors: Christine Kim Garcia; Woodring E Wright; Jerry W Shay
Journal: Nucleic Acids Res Date: 2007-10-02 Impact factor: 16.971