Ontology highlight
ABSTRACT:
SUBMITTER: Dines JN
PROVIDER: S-EPMC6752277 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Dines Jennifer N JN Golden-Grant Katie K LaCroix Amy A Muir Alison M AM Cintrón Dianne Laboy DL McWalter Kirsty K Cho Megan T MT Sun Angela A Merritt J Lawrence JL Thies Jenny J Niyazov Dmitriy D Burton Barbara B Kim Katherine K Fleming Leah L Westman Rachel R Karachunski Peter P Dalton Joline J Basinger Alice A Ficicioglu Can C Helbig Ingo I Pendziwiat Manuela M Muhle Hiltrud H Helbig Katherine L KL Caliebe Almuth A Santer René R Becker Kolja K Suchy Sharon S Douglas Ganka G Millan Francisca F Begtrup Amber A Monaghan Kristin G KG Mefford Heather C HC
Genetics in medicine : official journal of the American College of Medical Genetics 20180924 3
<h4>Purpose</h4>TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. We assess whether genotype and phenotype of TANGO2-related disorder has expanded since the initial discovery and determine the efficacy of exome sequencing (ES) as a diagnostic ...[more]