EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types
Open Access
- 1 March 1980
- journal article
- research article
- Published by SAGE Publications in Journal of the Royal Society of Medicine
- Vol. 73 (3) , 180-186
- https://doi.org/10.1177/014107688007300305
Abstract
Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.Keywords
This publication has 16 references indexed in Scilit:
- Cross-linking of collagen in the X-linked Ehlers-Danlos Type VBiochemical and Biophysical Research Communications, 1979
- Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndromeHuman Genetics, 1979
- Inheritance of Ehlers-Danlos type IV syndrome.Journal of Medical Genetics, 1977
- Lysyl Oxidase Deficiency in Ehlers–Danlos Syndrome Type VConnective Tissue Research, 1975
- Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos SyndromeScience, 1973
- A Heritable Disorder of Connective TissueNew England Journal of Medicine, 1972
- Isolation and characterization of a chick cartilage collagen containing three identical chainsBiochemistry, 1971
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970
- 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