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Article

Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

American journal of medical genetics. Part A - 1 Mar 2018

Quiñones-Pérez Bianca, VanNoy Grace E, Towne Meghan C, Shen Yiping, Singh Michael N, Agrawal Pankaj B, Smith Sharon E

Abstract excerpt

Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and...

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Topics

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Share to Aortic Aneurysm, Thoracic
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

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Share to Gene Deletion

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Source

Identifiers

PMID: 29350460
DOI: 10.1002/ajmg.a.38590

Genes

LTBP1
FBN1
SMAD2
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2

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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