Inheritance of Ehlers-Danlos type IV syndrome.
Open Access
- 1 June 1977
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 14 (3) , 200-204
- https://doi.org/10.1136/jmg.14.3.200
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.This publication has 19 references indexed in Scilit:
- Immunohistochemical evidence for the presence of collagen type III in human arterial walls, arterial thrombi, and in leukocytes, incubated with collagen in vitroJournal of Molecular Medicine, 1975
- Identification of the collagenous proteins synthesized by cultured cells from human skinBiochemistry, 1975
- Lysyl Oxidase Deficiency in Ehlers–Danlos Syndrome Type VConnective Tissue Research, 1975
- Human aorta collagens: Evidence for three distinct speciesBiochemical and Biophysical Research Communications, 1974
- Collagen Polymorphism: Characterization of Molecules with the Chain Composition [α1(III)] 3 in Human TissuesScience, 1974
- Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos SyndromeScience, 1973
- Characterization of collagen peptides by sodium dodecylsulfate-polyacrylamide electrophoresisAnalytical Biochemistry, 1971
- Identification of three genetically distinct collagens by cyanogen bromide cleavage of insoluble human skin and cartilage collagenBiochemical and Biophysical Research Communications, 1971
- Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.Annals of the Rheumatic Diseases, 1969
- Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).BMJ, 1967