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Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: del...

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: del...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7b6205a0ff824d4c92e62b8070c2af74

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

About this item

Full title

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2018-03, Vol.13 (1), p.41-41, Article 41

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Thoracic and abdominal aortic aneurysms and dissection often develop in hypertensive elderly patients. At higher risk are smokers and those who have a family history of aortic aneurysms. In most affected families, the aortic aneurysms and dissection is inherited in an autosomal dominant manner with decreased penetrance and variable expressivity. Mu...

Alternative Titles

Full title

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_7b6205a0ff824d4c92e62b8070c2af74

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7b6205a0ff824d4c92e62b8070c2af74

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-018-0769-7

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