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

Title
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
Authors
Keywords
<em class=EmphasisTypeItalic >CDK13</em>, CHDFIDD, De novo variant, Neurodevelopmental disorders, Agenesis of the corpus callosum, Hypertelorism, Developmental delay, Cyclin-dependent kinase, Undiagnosed Diseases Network
Journal
Genome Medicine
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-08-14
DOI
10.1186/s13073-017-0463-8

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