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scientific articles
Inheritance of Ehlers-Danlos Type IV Syndrome
source: Journal of Medical Genetics
year: 1977
authors: Pope FM, Martin GR, McKusick VA
summary/abstract: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.
organization: St. Nicholas Hospital Plumstead; Brook Hospital London; National Institute of Dental Research Bethesda; Johns Hopkins HospitalDOI: 10.1136/jmg.14.3.200
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