Ontology highlight
ABSTRACT:
SUBMITTER: Tirosh I
PROVIDER: S-EPMC6668194 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Tirosh Irit I Spielman Shiri S Barel Ortal O Ram Reut R Stauber Tali T Paret Gideon G Rubinsthein Marina M Pessach Itai M IM Gerstein Maya M Anikster Yair Y Shukrun Rachel R Dagan Adi A Adler Katerina K Pode-Shakked Ben B Volkov Alexander A Perelman Marina M Greenberger Shoshana S Somech Raz R Lahav Einat E Majmundar Amar J AJ Padeh Shai S Hildebrandt Friedhelm F Vivante Asaf A
Pediatric rheumatology online journal 20190730 1
<h4>Background</h4>Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to phenotypic and genetic heterogeneity.<h4>Methods</h4>We employed whole exome sequencing (WES) in patients presenting with childhood-onset lupus with severe and/or atypical presentations to identif ...[more]