TY - JOUR
T1 - Toward precision medicine in vascular connective tissue disorders
AU - Ziegler, Shira G.
AU - MacCarrick, Gretchen
AU - Dietz, Harry C.
N1 - Publisher Copyright:
© 2021 Wiley Periodicals LLC.
PY - 2021/11
Y1 - 2021/11
N2 - 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.
AB - 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.
KW - Loeys-Dietz syndrome
KW - Marfan syndrome
KW - connective tissue disorders
UR - http://www.scopus.com/inward/record.url?scp=85113814097&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85113814097&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.62461
DO - 10.1002/ajmg.a.62461
M3 - Article
C2 - 34428348
AN - SCOPUS:85113814097
SN - 1552-4825
VL - 185
SP - 3340
EP - 3349
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -