Figure 1. Study design of the investigations by Dixon-Salazar and coworkers to identify genes implicated in autosomal recessive disorders. The current publication mainly deals with 10/118 families, in which a known clinical diagnosis was revised after exome sequencing.

Ingo Helbig

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

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