Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

• Main Authors: Irit Tirosh (Author), Shiri Spielman (Author), Ortal Barel (Author), Reut Ram (Author), Tali Stauber (Author), Gideon Paret (Author), Marina Rubinsthein (Author), Itai M. Pessach (Author), Maya Gerstein (Author), Yair Anikster (Author), Rachel Shukrun (Author), Adi Dagan (Author), Katerina Adler (Author), Ben Pode-Shakked (Author), Alexander Volkov (Author), Marina Perelman (Author), Shoshana Greenberger (Author), Raz Somech (Author), Einat Lahav (Author), Amar J. Majmundar (Author), Shai Padeh (Author), Friedhelm Hildebrandt (Author), Asaf Vivante (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 du...