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Article

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Orphanet journal of rare diseases - 3 Feb 2015

Campens Laurence, Callewaert Bert, Muiño Mosquera Laura, Renard Marjolijn, Symoens Sofie, De Paepe Anne, Coucke Paul, De Backer Julie

Abstract excerpt

BACKGROUND: Heritable Thoracic Aortic Disorders (H-TAD) may present clinically as part of a syndromic entity or as an isolated (nonsyndromic) manifestation. About one dozen genes are now available for clinical molecular testing. Targeted single gene testing is hampered by significant clinical overlap between syndromic H-TAD entities and the absence of discriminating features in isolated cases. Therefore panel...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25644172
DOI: 10.1186/s13023-014-0221-6
PMCID: PMC4326194

Genes

FBN1
SMAD3
TGFB2
ACTA2
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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