Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Abstract
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of...
Paper Details
Title
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Published Date
Oct 9, 2017
Journal
Volume
49
Issue
11
Pages
1593 - 1601
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