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Toward precision medicine in vascular connective tissue disorders.

Authors :
Ziegler SG
MacCarrick G
Dietz HC
Source :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3340-3349. Date of Electronic Publication: 2021 Aug 24.
Publication Year :
2021

Abstract

Tremendous progress has been made in understanding the etiology, pathogenesis, and treatment of inherited vascular connective tissue disorders. While new insights regarding disease etiology and pathogenesis have informed patient counseling and care, there are numerous obstacles that need to be overcome in order to achieve the full promise of precision medicine. In this review, these issues will be discussed in the context of Marfan syndrome and Loeys-Dietz syndrome, with additional emphasis on the pioneering contributions made by Victor McKusick.<br /> (© 2021 Wiley Periodicals LLC.)

Details

Language :
English
ISSN :
1552-4833
Volume :
185
Issue :
11
Database :
MEDLINE
Journal :
American journal of medical genetics. Part A
Publication Type :
Academic Journal
Accession number :
34428348
Full Text :
https://doi.org/10.1002/ajmg.a.62461