메뉴 건너뛰기




Volumn 23, Issue 5, 2013, Pages 772-775

Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita

Author keywords

Autosomal dominant dyskeratosis congenita; Capillary nonperfusion; Fluorescein angiography; Laser photocoagulation; Retinal neovascularization; TERC mutation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DYSKERATOSIS CONGENITA; FEMALE; GENE; HUMAN; LASER COAGULATION; OPHTHALMOSCOPY; PANCYTOPENIA; POINT MUTATION; PRIORITY JOURNAL; PROLIFERATIVE RETINOPATHY; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA NEOVASCULARIZATION; TERC GENE; VITREOUS FLOATERS; VITREOUS HEMORRHAGE;

EID: 84881517545     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.5301/ejo.5000297     Document Type: Article
Times cited : (17)

References (7)
  • 1
    • 36749012920 scopus 로고    scopus 로고
    • Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex
    • Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie 2008;90:122-30.
    • (2008) Biochimie , vol.90 , pp. 122-130
    • Vulliamy, T.J.1    Dokal, I.2
  • 2
    • 2442617343 scopus 로고    scopus 로고
    • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
    • Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004;36:447-9.
    • (2004) Nat Genet , vol.36 , pp. 447-449
    • Vulliamy, T.1    Marrone, A.2    Szydlo, R.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 3
    • 77049088459 scopus 로고    scopus 로고
    • Ocular and Fanconi anemia and dyskeratosis congenita
    • Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology 2010;117:615-22.
    • (2010) Ophthalmology , vol.117 , pp. 615-622
    • Tsilou, E.T.1    Giri, N.2    Weinstein, S.3    Mueller, C.4    Savage, S.A.5    Alter, B.P.6
  • 6
    • 70350446780 scopus 로고    scopus 로고
    • Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita
    • Johnson CA, Hatfield M, Pulido JS. Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita. Ophthalmic Genet 2009;30:181-4.
    • (2009) Ophthalmic Genet , vol.30 , pp. 181-184
    • Johnson, C.A.1    Hatfield, M.2    Pulido, J.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.