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Article

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Clinical genetics - 1 Mar 2017

Mazzella J-M, Frank M, Collignon P, Langeois M, Legrand A, Jeunemaitre X, Albuisson J

Abstract excerpt

Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway-related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called...

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Identifiers

PMID: 27440102
DOI: 10.1111/cge.12838

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