A novel variant in MYLK causes thoracic aortic dissections : genotypic and phenotypic description

Published on Dec 1, 2016in BMC Medical Genetics1.74
· DOI :10.1186/s12881-016-0326-y
Matias Hannuksela3
Estimated H-index: 3
(Umeå University),
Eva-Lena Stattin17
Estimated H-index: 17
(Umeå University)
+ 4 AuthorsBo Carlberg29
Estimated H-index: 29
(Umeå University)
Background: Mutations in MYLK cause non- syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characteri ...
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