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Clinical and Experimental Dermatology
Volumn 39, Issue 3, 2014, Pages 310-314
X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora
Author keywords

[No Author keywords available]
Indexed keywords

ACTINIC KERATOSIS; ADULT; ADULTHOOD; ARTICLE; BONE MARROW DEPRESSION; CANCER PREVENTION; CANCER SCREENING; CASE REPORT; CHEEK MUCOSA; CHILDHOOD DISEASE; DISEASE DURATION; DISEASE SEVERITY; DRY SKIN; DYSKERATOSIS CONGENITA; ECTROPION; EPIPHORA; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPERHIDROSIS; HYPERKERATOSIS; HYPERPIGMENTATION; INFLAMMATORY INFILTRATE; LEUKOPLAKIA; MALE; MEDICAL GENETICS; MEDICAL HISTORY; MOLECULAR DIAGNOSIS; NAIL DYSTROPHY; ONYCHOLYSIS; PHOTODAMAGED SKIN; PHYSICAL EXAMINATION; POIKILODERMA; PRIORITY JOURNAL; PUNCH BIOPSY; SKIN DEFECT; SKIN REDNESS; TELANGIECTASIA; CLINICAL FEATURE; HETEROZYGOTE; CUTANEOUS PARAMETERS; LACRIMAL GLAND DISEASE; PATHOLOGY; SUNLIGHT;
EID: 84898985439     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12272     Document Type: Article
Times cited : (6)
References (9)
  • 2
    • 33645508898 scopus 로고    scopus 로고
    • Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
    • Vulliamy TJ, Marrone A, Knight SW, et al,. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107: 2680-5.
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3
  • 3
    • 0032705706 scopus 로고    scopus 로고
    • Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) is caused by mutations in the DKC1 gene
    • Knight SW, Heiss NS, Vulliamy T, et al,. Unexplained aplastic anaemia, immunodeficiency and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) is caused by mutations in the DKC1 gene. Br J Haematol 1999; 107: 355-9.
    • (1999) Br J Haematol , vol.107 , pp. 355-359
    • Knight, S.W.1    Heiss, N.S.2    Vulliamy, T.3
  • 4
    • 0026803181 scopus 로고
    • Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: A new syndrome?
    • Revesz T, Fletcher S, al Gazali LI, DeBuse P,. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet 1992; 29: 673-5.
    • (1992) J Med Genet , vol.29 , pp. 673-675
    • Revesz, T.1    Fletcher, S.2    Al Gazali, L.I.3    Debuse, P.4
  • 5
    • 84876410662 scopus 로고    scopus 로고
    • Constitutional mutations in RTEL1 cause severe dyskeratosis congenita
    • Walne AJ, Vulliamy T, Kirwan M, et al,. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet 2013; 92: 448-53.
    • (2013) Am J Hum Genet , vol.92 , pp. 448-453
    • Walne, A.J.1    Vulliamy, T.2    Kirwan, M.3
  • 6
    • 84855486059 scopus 로고    scopus 로고
    • Dyskeratosis congenital as a disorder of telomere maintenance
    • Nelson ND, Bertuch AA,. Dyskeratosis congenital as a disorder of telomere maintenance. Mutat Res 2012; 1730: 43-51.
    • (2012) Mutat Res , vol.1730 , pp. 43-51
    • Nelson, N.D.1    Bertuch, A.A.2
  • 7
    • 84857769403 scopus 로고    scopus 로고
    • Telomere length is associated with disease severity and declines with age in dyskeratosis congenita
    • Alter BP, Rosenberg PS, Giri N, et al,. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 2012; 97: 353-9.
    • (2012) Haematologica , vol.97 , pp. 353-359
    • Alter, B.P.1    Rosenberg, P.S.2    Giri, N.3
  • 8
    • 79960945313 scopus 로고    scopus 로고
    • Progression of actinic keratosis to squamous cell carcinoma revisited: Clinical and treatment implications
    • Feldman SR, Fleischer AB Jr,. Progression of actinic keratosis to squamous cell carcinoma revisited: clinical and treatment implications. Cutis 2011; 87: 201-7.
    • (2011) Cutis , vol.87 , pp. 201-207
    • Feldman, S.R.1    Fleischer, Jr.A.B.2

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.