{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:47Z","timestamp":1761101867231,"version":"build-2065373602"},"reference-count":24,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,6]]},"abstract":"<jats:p>The Ehlers-Danlos type IV syndrome is a severe disease with premature death from catastrophic tearing of large arteries and a tendency to intestinal rupture. These patients lack the genetically distinct type III collagen. Here evidence is presented that obligate heterozygotes have lowered levels of type III collagen in their skin and that their cultured fibroblasts produce less than normal amounts of this protein. The inheritance is autosomal recessive.<\/jats:p>","DOI":"10.1136\/jmg.14.3.200","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"200-204","source":"Crossref","is-referenced-by-count":79,"title":["Inheritance of Ehlers-Danlos type IV syndrome."],"prefix":"10.1136","volume":"14","author":[{"given":"F M","family":"Pope","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G R","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V A","family":"McKusick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1136\/bmj.2.5552.612","article-title":"Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain basic defect","volume":"2","author":"Barabas, A.P.","year":"1967","unstructured":"Barabas, A. P. (1967). Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain basic defect. British Medical Journal, 2, 612-613.","journal-title":"British Medical Journal"},{"key":"ref_2","article-title":"The Ehlers-Danlos Syndrome","author":"Beighton, P.","year":"1970","unstructured":"Beighton, P. (1970). The Ehlers-Danlos Syndrome. William Heinemann Medical Books."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1136\/ard.28.3.228","article-title":"Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients","volume":"28","author":"Beighton, P.; Price, A.; Lord, J.; Dickson, E.","year":"1969","unstructured":"Beighton, P., Price, A., Lord, J., and Dickson, E. (1969). Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients. 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M., and Falls, H. T. (1949). Ehlers-Danlos syndrome, a clinical and genetic study. Archives of Dermatology, 60, 82-105.","journal-title":"Archives of Dermatology"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1073\/pnas.68.2.454","article-title":"The nature of collagen synthesised on cultured human fibroblasts","volume":"68","author":"Layman, D.L.; McGoodwin, E.; Martin, G.R.","year":"1971","unstructured":"Layman, D. L., McGoodwin, E., and Martin, G. R. (1971). The nature of collagen synthesised on cultured human fibroblasts. 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Biochemistry, 14, 1589-1594.","journal-title":"Biochemistry"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1126\/science.182.4109.298","article-title":"Defect in the conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome","volume":"182","author":"Lichtenstein, J.R.; Martin, G.R.; Kohn, L.D.; Byers, P.H.; McKusick, V.A.","year":"1973","unstructured":"Lichtenstein, J. R., Martin, G. R., Kohn, L. D., Byers, P. H., and McKusick, V. A. (1973). Defect in the conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science, 182, 298-299.","journal-title":"Science"},{"key":"ref_17","first-page":"141","article-title":"Hereditary disorders of connective tissue","volume":"35","author":"McKusick, V.A.","year":"1959","unstructured":"McKusick, V. A. (1959). Hereditary disorders of connective tissue. 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Cutis Laxa. Communication IV. Moskauer dermatologische und venerologische gesellschaft. 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