A disease with features of cutis laxa and Ehlers-Danlos syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00291225.pdf
Reference7 articles.
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2. Byers PH, Siegel RC, Holbrook KA, Narayanan AS, Bornstein P, Hall JG (1980) X-linked cutis laxa. Defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med 303:61?65
3. Laemmli, UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680?685
4. Marchase P, Holbrook K, Pinnell SR, (1980) A familial, cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol 75:399?403
5. McKusick VA (1972) Heritable disorders of connective tissue, 4th edn. Mosby, St Louis, Mo, pp 292?389
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1. Cutis laxa: autosomal dominant inheritance in five generations;Clinical Genetics;2008-06-28
2. Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues;Journal of Cellular Biochemistry;2007
3. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
4. Collagen Dysregulation in the Dermis of the Sagg/+ Mouse: A Loose Skin Model;Journal of Investigative Dermatology;2006-03
5. Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?;Cardiology in the Young;2000-11
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