Article
Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
European journal of medical genetics - 1 Jun 2019
Arsov Todor, Sestan Mario, Cekada Nastasia, Frkovic Marijan, Andrews Dan, He Yuke, Shen Nan, Vinuesa Carola G, Jelusic Marija
Abstract excerpt
We report a case of a 17-year-old Caucasian girl with syndromic features of clinically unrecognized Kabuki syndrome (KS), who developed systemic lupus erythematosus (SLE). Diagnosis of KS was established after whole exome sequencing (WES) and detection of de novo frameshift 1bp deletion in histone-lysine N-methyltransferase 2D gene (KMT2D). The pathogenic variant in exon 34 (c.8626delC: 55 reads C, 56 reads...
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