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Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg
Author(s) -
Cetinkaya Arda,
Karaman Ali,
Mutlu Mehmet Burak,
Yavuz Taner
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12220
Subject(s) - marfan syndrome , medicine , ectopia lentis , mitral valve prolapse , arachnodactyly , joint hypermobility , missense mutation , aortic dissection , genetic testing , family history , bicuspid aortic valve , nosology , cardiology , aortic valve , aorta , pathology , genetics , anatomy , mutation , mitral valve , biology , gene
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