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...
| Հիմնական հեղինակներ: | , , , , |
|---|---|
| Ձևաչափ: | Journal article |
| Հրապարակվել է: |
BMJ Publishing Group
2017
|