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Volumn 12, Issue 5, 2002, Pages 428-431

Acrogeric Ehlers-Danlos syndrome type IV: Report of a new patient with additional findings

Author keywords

Acrogeria; COL3A1; Ehlers Danlos syndrome type IV; Glaucoma; Skeletal abnormalities

Indexed keywords

COLLAGEN FIBER; COLLAGEN TYPE 3; PROCOLLAGEN;

EID: 0036751475     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (14)
  • 1
    • 0011014793 scopus 로고    scopus 로고
    • Ehlers-Danlos Syndrome
    • Reeve ECR, eds., Academic Press, Hardcover
    • Pope FM. Ehlers-Danlos Syndrome. In: Reeve ECR, eds. Encyclopedia of Genetics, Academic Press, Hardcover, 2001; 603-5.
    • (2001) Encyclopedia of Genetics , pp. 603-605
    • Pope, F.M.1
  • 3
    • 0029902127 scopus 로고    scopus 로고
    • COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
    • Pope FM, Narcisi P, Nicholls AC, et al. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. Br J Dermatol 1996; 135: 163-81.
    • (1996) Br J Dermatol , vol.135 , pp. 163-181
    • Pope, F.M.1    Narcisi, P.2    Nicholls, A.C.3
  • 4
    • 0030896754 scopus 로고    scopus 로고
    • Ocular complications in Ehlers-Danlos syndrome Type IV
    • Pollack JS, Custer PL, Hart WM, et al. Ocular complications in Ehlers-Danlos syndrome Type IV. Arch Ophthalmol 1997; 115: 416-9.
    • (1997) Arch Ophthalmol , vol.115 , pp. 416-419
    • Pollack, J.S.1    Custer, P.L.2    Hart, W.M.3
  • 5
    • 0023229390 scopus 로고
    • Localization of extracellular proteins of the human trabecular meshwork by indirect immunofluorescence
    • Murphy CG, Yun AJ, Newsome DA, Alvarado JA. Localization of extracellular proteins of the human trabecular meshwork by indirect immunofluorescence. Am J Ophthalmol 1987; 104: 33-43.
    • (1987) Am J Ophthalmol , vol.104 , pp. 33-43
    • Murphy, C.G.1    Yun, A.J.2    Newsome, D.A.3    Alvarado, J.A.4
  • 6
    • 0025762242 scopus 로고
    • Immunogold ultrastructural localization of collagens in the aged human outflow system
    • Marshall GE, Konstas AG, Lee WR. Immunogold ultrastructural localization of collagens in the aged human outflow system. Ophthalmology 1991; 98: 692-700.
    • (1991) Ophthalmology , vol.98 , pp. 692-700
    • Marshall, G.E.1    Konstas, A.G.2    Lee, W.R.3
  • 7
    • 0034054910 scopus 로고    scopus 로고
    • Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
    • Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673-80.
    • (2000) N Engl J Med , vol.342 , pp. 673-680
    • Pepin, M.1    Schwarze, U.2    Superti-Furga, A.3    Byers, P.H.4
  • 8
    • 0021918450 scopus 로고
    • Joint controctures and acroosteolysis in Ehlers-Danlos syndrome type IV
    • Lewkonia RM, Pope FM. Joint controctures and acroosteolysis in Ehlers-Danlos syndrome type IV. J Rheumotol 1985; 12: 140-4.
    • (1985) J Rheumotol , vol.12 , pp. 140-144
    • Lewkonia, R.M.1    Pope, F.M.2
  • 9
    • 0021965461 scopus 로고
    • Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome
    • Ayres JG, Pope FM, Reidy JF, Clark TJ. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax 1985; 40: 300-5.
    • (1985) Thorax , vol.40 , pp. 300-305
    • Ayres, J.G.1    Pope, F.M.2    Reidy, J.F.3    Clark, T.J.4
  • 10
    • 0028804314 scopus 로고
    • Patients with type IV Ehlers-Danlos syndrome may be predisposed to atlantooxial subluxation
    • Halko GJ, Cobb R, Abeles M. Patients with type IV Ehlers-Danlos syndrome may be predisposed to atlantooxial subluxation. J Rheumatol 1995; 22: 2152-5.
    • (1995) J Rheumatol , vol.22 , pp. 2152-2155
    • Halko, G.J.1    Cobb, R.2    Abeles, M.3
  • 11
    • 0021319494 scopus 로고
    • Structural skull defects in type IV Ehlers-Danlos syndrome
    • Esposito R, Crocchiolo P, Galli M, Lazzarin A. Structural skull defects in type IV Ehlers-Danlos syndrome. Br J Dermatol 1984; 110: 122-4.
    • (1984) Br J Dermatol , vol.110 , pp. 122-124
    • Esposito, R.1    Crocchiolo, P.2    Galli, M.3    Lazzarin, A.4
  • 14
    • 0017374715 scopus 로고
    • Inheritance of Ehlers-Danlos type IV syndrome
    • Pope FM, Martin GR, McKusick VA. Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet 1977; 14: 200-4.
    • (1977) J Med Genet , vol.14 , pp. 200-204
    • Pope, F.M.1    Martin, G.R.2    McKusick, V.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.