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Mutations In The Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome And Occur In Exons 8 And 9
(Nature Publishing Group, 2006)
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. Approximately 10-25% of familial and sporadic cases are caused by mutations ...
Recurrent Salmonella Bacteremia in Interleukin-12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2006)
Interleukin-12 receptor beta 1 (IL12RB1) deficiency causes vulnerability to poorly virulent mycobacteria and nontyphoid Salmonella species. We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous; ...