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Ehlers-Danlos Syndrome
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Ehlers-Danlos syndrome: Revised Nosology, Villefranche, 1997
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Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndrome: Revised Nosology, Villefranche, 1997. Am J Med Genet 1998; 77: 31-7.
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COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
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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.
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Pope, F.M.1
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Ocular complications in Ehlers-Danlos syndrome Type IV
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Pollack JS, Custer PL, Hart WM, et al. Ocular complications in Ehlers-Danlos syndrome Type IV. Arch Ophthalmol 1997; 115: 416-9.
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Localization of extracellular proteins of the human trabecular meshwork by indirect immunofluorescence
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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.
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Murphy, C.G.1
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Immunogold ultrastructural localization of collagens in the aged human outflow system
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Marshall GE, Konstas AG, Lee WR. Immunogold ultrastructural localization of collagens in the aged human outflow system. Ophthalmology 1991; 98: 692-700.
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Marshall, G.E.1
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7
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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
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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.
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Joint controctures and acroosteolysis in Ehlers-Danlos syndrome type IV
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Lewkonia RM, Pope FM. Joint controctures and acroosteolysis in Ehlers-Danlos syndrome type IV. J Rheumotol 1985; 12: 140-4.
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Lewkonia, R.M.1
Pope, F.M.2
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9
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0021965461
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Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome
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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.
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Patients with type IV Ehlers-Danlos syndrome may be predisposed to atlantooxial subluxation
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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.
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12
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Acrogeria of the Gottron type in a mother and son
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Blaszczyk M, Depaepe A, Nuytinck L, Glinska-Ferenz M, Joblonska S. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol 2000; 10: 36-40.
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Glinska-Ferenz, M.4
Joblonska, S.5
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EDS IV (acrogeria): New autosomal dominant and recessive types
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Pope FM, Nicholls AC, Jones PM, Wells RS, Lawrence D. EDS IV (acrogeria): new autosomal dominant and recessive types. J R Soc Med 1980; 73: 180-6.
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Pope, F.M.1
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Jones, P.M.3
Wells, R.S.4
Lawrence, D.5
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