Kabuki syndrome
Exome Sequencing Studies Tackle Increasingly Complex Diseases
At the American College of Medical Genetics meeting, University of Washington researcher Jay Shendure outlined the progress that his team has made using exome sequencing to study both Mendelian and complex conditions.
Exome Sequencing Study Yields Kabuki Syndrome Gene
Researchers from the US and Japan have used exome sequencing to find a gene involved in a rare genetic condition called Kabuki syndrome.