Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies - Tirosh, Irit; Spielman, Shiri; Barel, Ortal; Ram, Reut; Stauber, Tali; Paret, Gideon; Rubinsthein, Marina; Pessach, Itai M.; Gerstein, Maya; Anikster, Yair; Shukrun, Rachel; Dagan, Adi; et al. (Pediatric rheumatology online journal, 2019)
Keywords: Adolescent; alpha-Mannosidase - genetics; Amino Acid Transport System y+L - genetics; Child; Child, Preschool; Complement C1q - genetics; Diagnosis; Etiology (Medicine); Exome sequencing; Female; Gain of Function Mutation - genetics; Genes; Genetic aspects; Genetic Predisposition to Disease - genetics; Genetic testing; Humans; Intravenous immunoglobulins; Lupus; Lupus erythematosus; Lupus Erythematosus, Systemic - genetics; Male; Monogenic; Mutation - genetics; PTEN Phosphohydrolase - genetics; SLE; STAT1 Transcription Factor - genetics; Systemic lupus erythematosus; WES; Whole Exome Sequencing - methods; WES; Monogenic; SLE