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Article

Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.

The American journal of cardiology - 1 Jun 2012

Al-Hassnan Zuhair N, Almesned Abdul Rahman, Tulbah Sahar, Hakami Ali, Al-Omrani Ahmed, Al Sehly Abdullah, Mohammed Shamayel, Majid Salma, Meyer Brian, Al-Fayyadh Majid

Abstract excerpt

Familial aortic aneurysm (AA) is mostly inherited as an autosomal dominant disorder. However, recessively inherited AA has also been observed but in association with skin manifestations of cutis laxa, which is caused by a mutated EFEMP2 gene. In the present study, we recruited 9 patients, from 4 unrelated consanguineous families, with recessively inherited AA. The index cases, their parents, and siblings...

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Source

Identifiers

PMID: 22440127
DOI: 10.1016/j.amjcard.2012.01.394

Genes

EFEMP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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