Open AccessIncreased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events
Author(s) -
Linnea M. Baudhuin,
Katrina E. Kotzer,
Susan A. Lagerstedt
Publication year - 2014
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2014.91
Subject(s) - marfan syndrome , proband , missense mutation , medicine , aortic dissection , genotype , cardiology , genetics , aorta , phenotype , mutation , biology , gene
Marfan syndrome is a systemic disorder that typically involves FBN1 mutations and cardiovascular manifestations. We investigated FBN1 genotype-phenotype correlations with aortic events (aortic dissection and prophylactic aortic surgery) in patients with Marfan syndrome.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom