welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
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
read more full text source
expertly curated content related to this topic
-
Abdominal Aortic AneurysmPathophysiology -Elastin and collagen d...
-
Fraser C. Henderson Sr. , MDDr. Fraser C. Henderson Sr. is an except...
-
Skin Ultrastructural Clues on the Impact of Ehlers-Danlos Syndrome in WomenEhlers-Danlos syndrome is heterogeneous ...
-
Ronald K. Jaekle, MDDr. Ronald Jaekle is an obstetrician-gyn...
-
The Coalition Against Pediatric Pain (TCAPP)The Coalition Against Pediatric Pain is ...
-
Rodney Grahame, CBE, MD, FRCPProfessor Rodney Grahame was a GP in St ...
-
EDS: It Takes a Village – A Physical Therapist’s Role in an Integrative Approachhttps://www.youtube.com/watch?v=ml3R8Cpt...