Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Published on Dec 1, 2017in Genome Medicine10.886
· DOI :10.1186/s13073-017-0463-8
Bret L. Bostwick9
Estimated H-index: 9
(BCM: Baylor College of Medicine),
Scott McLean1
Estimated H-index: 1
(BCM: Baylor College of Medicine)
+ 29 AuthorsSeema R. Lalani35
Estimated H-index: 35
(BCM: Baylor College of Medicine)
Background De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder.
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