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Article

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

American journal of human genetics - 5 Apr 2018

Guo Dong-Chuan, Regalado Ellen S, Pinard Amelie, Chen Jiyuan, Lee Kwanghyuk, Rigelsky Christina, Zilberberg Lior, Hostetler Ellen M, Aldred Micheala, Wallace Stephanie E, Prakash Siddharth K, Leal Suzanne M, Bamshad Michael J, Nickerson Deborah A, Natowicz Marvin, Rifkin Daniel B, Milewicz Dianna M

Abstract excerpt

The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease. However, many families in which multiple members have thoracic aortic disease do not have alterations in the known aortopathy genes. Genes highly expressed in the aorta were assessed for rare variants in exome sequencing data from such...

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Source

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Identifiers

PMID: 29625025
DOI: 10.1016/j.ajhg.2018.03.002
PMCID: PMC5985335

Genes

LTBP3
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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