Molecular genetics of Marfan syndrome

2005139 citationsReview

Authors

Cathérine Boileau · Laboratoire de Microbiologie et Génétique Moléculaires

Guillaume Jondeau · Société Française de Cardiologie

Takeshi Mizuguchi · Yokohama City University

Naomichi Matsumoto · Japan Science and Technology Agency

Abstract

This review focuses on recent molecular genetics advances in Marfan syndrome and overlapping connective tissue disorders. Mutation spectrum of FBN1 and TGFBR2 in relation to phenotype is presented. Functional relation between fibrillin-1 and TGF-beta signaling is discussed. Future prospects in the study of Marfan syndrome are presented.

Topics & Keywords

Connective tissue disorders research Aortic Disease and Treatment Approaches Cardiac Valve Diseases and Treatments

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Current Opinion in Cardiology

Volume 20, Issue 3, pp. 194-200

DOI: 10.1097/01.hco.0000162398.21972.cd

Field-Weighted Citation Impact: 8.50