Article
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.
Pediatric research - 1 May 2009
Zivicnjak Miroslav, Franke Doris, Zenker Martin, Hoyer Juliane, Lücke Thomas, Pape Lars, Ehrich Jochen H H
Abstract excerpt
UNLABELLED: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal-recessive multisystem disorder with disproportionate growth failure, impaired T cell function, and steroid-resistant nephrotic syndrome. Recently, we presented the typical anthropometric features of SIOD. We now present data on two siblings who were initially classified as suffering from familial steroid-resistant nephrotic syndrome of...
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