Ontology highlight
ABSTRACT:
SUBMITTER: Tacik P
PROVIDER: S-EPMC4354704 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Tacik Pawel P Guthrie Kimberly J KJ Strongosky Audrey J AJ Broderick Daniel F DF Riegert-Johnson Douglas L DL Tang Sha S El-Khechen Dima D Parker Alexander S AS Ross Owen A OA Wszolek Zbigniew K ZK
Mayo Clinic proceedings 20150203 3
Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We describe such a case, a 22-year-old man who had mild intellectual developmental disabili ...[more]