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Article

Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Clinical genetics - 1 Dec 2014

Sheikhzadeh S, Brockstaedt L, Habermann C R, Sondermann C, Bannas P, Mir T S, Staebler A, Seidel H, Keyser B, Arslan-Kirchner M, Kutsche K, Berger J, Blankenberg S, von Kodolitsch Y

Abstract excerpt

The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys-Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24344637
DOI: 10.1111/cge.12308

Genes

TGFBR1
TGFBR2
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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