| |
| Dublin Core |
PKP Metadata Items |
Metadata for this Document |
| |
| 1. |
Title |
Title of document |
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. |
| |
| 2. |
Creator |
Author's name, affiliation, country |
Marta Rebelo; Department of Internal Medicine, University Hospital of Coimbra, Coimbra, Portugal.; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
Leonor Ramos; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
Jandira Lima; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
J Diniz Vieira; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
Purificação Tavares; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
Luísa Teixeira; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
Albuquerque Matos; Portugal |
| |
| 2. |
Creator |
Author's name, affiliation, country |
J Nascimento Costa; Portugal |
| |
| 3. |
Subject |
Discipline(s) |
|
| |
| 3. |
Subject |
Keyword(s) |
|
| |
| 4. |
Description |
Abstract |
The Ehlers-Danlos syndrome type IV (EDS-IV) is a hereditary, autosomal dominant disease that causes a defect in the procollagen III synthesis, which results in a structural modification in this protein. An awareness of the disease is of vital importance for the optimal outcome, since the affected individuals have a high risk of vascular, intestinal and uterine rupture. It's a disease with great clinical variability and the diagnosis is confirmed by detection of a mutation in the gene encoding collagen type III. The authors present a case report of a patient who appeared at the emergency ward with acute abdomen and hypovolemic shock after spontaneous aortic rupture. The diagnosis was confirmed after genetic study that identified a mutation in the (c.970G>A) in the COL3A1 gene, only reported once in the literature in a family with internal carotid dissections in some of its members. It's the first time that this mutation is reported in association with the EDS-IV. The authors also make a brief review of the clinical, genetic and molecular characteristics of this syndrome. |
| |
| 5. |
Publisher |
Organizing agency, location |
Ordem dos Médicos |
| |
| 6. |
Contributor |
Sponsor(s) |
|
| |
| 7. |
Date |
(YYYY-MM-DD) |
2012-06-20
|
| |
| 8. |
Type |
Status & genre |
article |
| |
| 8. |
Type |
Type |
|
| |
| 9. |
Format |
File format |
PDF (Português) |
| |
| 10. |
Identifier |
Uniform Resource Identifier |
https://actamedicaportuguesa.com:443/revista/index.php/amp/article/view/1405 |
| |
| 10. |
Identifier |
Digital Object Identifier (DOI) |
http://dx.doi.org/10.20344/amp.1405 |
| |
| 11. |
Source |
Title; vol., no. (year) |
Acta Médica Portuguesa; Vol 24, No 6 (2011): Novembro-Dezembro |
| |
| 12. |
Language |
English=en |
|
| |
| 14. |
Coverage |
Geo-spatial location, chronological period, research sample (gender, age, etc.) |
|
| |
| 15. |
Rights |
Copyright and permissions |
Copyright (c)
|