Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13657
Abstract: Patients with dystonia are particularly appropriate for diagnostic exome sequencing (DES), due to the complex, diverse features and genetic heterogeneity. Personal and family history data were collected from test requisition forms and medical records from… read more here.
Keywords: exome sequencing; diagnostic exome; sequencing dystonia; clinical diagnostic ... See more keywords