CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
Author:
Funder
Genome Canada
London Health Sciences Centre
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference24 articles.
1. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing;Sifrim;Nat Genet,2016
2. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders;Bostwick;Genome Med,2017
3. De novo variants in CDK13 associated with syndromic ID/DD: molecular and clinical delineation of 15 individuals and a further review;van den Akker;Clin Genet,2018
4. Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: three patients without cardiac defects;Uehara;Eur J Med Genet,2018
5. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability;Hamilton;J Med Genet,2018
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