Exome sequencing in severe ID. De Ligt and colleages have performed exome sequencing in 100 patients in severe ID, identifying de novo mutations in known ID genes and many candidate genes. Three of these novel genes are recurrent.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

Facebook Twitter 

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.