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Article

Familial aortic disease and a large duplication in chromosome 16p13.1.

Molecular genetics & genomic medicine - 1 May 2018

Erhart Philipp, Brandt Tobias, Straub Beate K, Hausser Ingrid, Hentze Sabine, Böckler Dittmar, Grond-Ginsbach Caspar

Abstract excerpt

BACKGROUND AND PURPOSE: A recurrent duplication of chromosome 16p13.1 was associated with aortic dissection as well as with cervical artery dissection. We explore the segregation of this duplication in a family with familial aortic disease. METHODS: Whole exome sequencing (WES) analysis was performed in a patient with a family history of aortic diseases and ischemic stroke due to an aortic dissection extending...

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Identifiers

PMID: 29441698
DOI: 10.1002/mgg3.371
PMCID: PMC6014459

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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