Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
<p>INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations.</p><p>METHODS: Patients were investigated by exome sequencing, hav...
| Main Authors: | , , , , |
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| Format: | Journal article |
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BMJ Publishing Group
2017
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