Cancer in dyskeratosis congenita.

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Published in Blood on March 12, 2009

Authors

Blanche P Alter1, Neelam Giri, Sharon A Savage, Philip S Rosenberg

Author Affiliations

1: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health/DHHS, 6120 Executive Blvd, Executive Plaza South, Rockville, MD 20852-7231, USA. alterb@mail.nih.gov

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DYSKERATOSIS CONGENITA. FIRST REPORT OF ITS OCCURRENCE IN A FEMALE AND A REVIEW OF THE LITERATURE. Arch Dermatol (1963) 0.97

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THE ASSOCIATION OF DYSKERATOSIS CONGENITA AND FANCONI'S ANAEMIA. Med J Aust (1965) 0.90

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[Zinsser-Engman-Cole syndrome with an extensive dyschromia of the skin]. Przegl Dermatol (1970) 0.83

Dyskeratosis congenita and associated interstitial lung disease: a case report. Acta Clin Belg (1998) 0.83

Oral squamous cell carcinoma in a case of dyskeratosis congenita. Ann Dent (1994) 0.83

[Leukoplakia, pigment changes and ungual dystrophy. Zinsser-Cole-Engman syndrome--so-called congenital dyskeratosis]. Med Welt (1966) 0.83

Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas. Br J Dermatol (2007) 0.83

Dyskeratosis congenita. Pediatr Radiol (1997) 0.82

[Congenital dyskeratosis or Zinsser-Cole-Engman dyskeratosis. A probable female case]. Presse Med (1995) 0.82

Letter: Dyskeratosis congenita Zinsser-Cole-Engman form with abnormal karyotype. Dermatologica (1975) 0.81

[X-linked dyskeratosis congenita with aplastic anemia--genetic and hematologic studies]. Zhonghua Yi Xue Za Zhi (Taipei) (1989) 0.81

Dyskeratosis congenita in an adolescent girl with associated choanal atresia. Pediatr Dermatol (2005) 0.81

Dyskeratosis congenita. Haematologic, cytogenetic, and dermatologic studies. Scand J Haematol (1984) 0.81

Abnormal nails in a patient with severe anemia. Dyskeratosis congenita. Arch Dermatol (1997) 0.80

[A case report of dyskeratosis congenita with pancytopenia in special reference to hemopoietic stem cells]. Rinsho Ketsueki (1982) 0.80

[Dyskeratosis congenita (Zinsser-Engman-Cole)]. Przegl Dermatol (1975) 0.80

[Zinsser-Engman-Cole syndrome]. Hautarzt (1983) 0.80

[Zinsser-Cole-Engman syndrome. Congenital dyskeratosis]. Med Cutan Ibero Lat Am (1982) 0.80

Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child. Pediatr Dev Pathol (2007) 0.79

Dyskeratosis congenita and nasopharyngeal atresia. J Laryngol Otol (1992) 0.79

[Zinsser-Engman-Cole syndrome (dyskeratosis congenita) in a 13-year-old boy]. Wiad Lek (1988) 0.79

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