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Publications

The publications listed below are links that will open in a separate window:

Damrauer SM et al.; FBN1 Coding Variants and Nonsyndromic Aortic Disease.

Wallace SE et al.; MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Shalhub S et al.; The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).

Hostetler EM et al.; SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Regalado et al.; Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Jondeau et al.; TGFBR1, TGFBR2: The Montalcino Aortic Consortium. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium 

Guo. D C et al.; LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections 

Kuang, S et al.; FOXE3 mutations predispose to thoracic aorticaneurysms and dissections 

Bradley, T et al.; The Expanding Clinical Spectrum of Extracardiovascularand Cardiovascular Manifestations of Heritable ThoracicAortic Aneurysm and Dissection

CONFERENCE ABSTRACT: MAC DATA PRESENTED AT 2015 AHA SCIENTIFIC SESSIONS – REPOSTED FROM CIRCULATION: Factors associated with aortic dissection in patients with TGFBR1 or TGFBR2 mutations: Results from the Montalcino Aortic Consortium

Regalado et al.; Aortic Disease Risk of ACTA2 Mutations

Guo et al.; MAT2A mutations predispose individuals to thoracic aortic aneurysms.

Familial thoracic aortic aneurysm

Loeys-Dietz syndrome: a primer for diagnosis and management

MacCarrick Response

Loeys-Dietz response – Genetics in Medicine

Current Opinion – Heritable Thoracic Aortic Disorders