Article
Schimke immunoosseous dysplasia: defining skeletal features.
European journal of pediatrics - 1 Jul 2010
Hunter Kshamta B, Lücke Thomas, Spranger Jürgen, Smithson Sarah F, Alpay Harika, André Jean-Luc, Asakura Yumi, Bogdanovic Radovan, Bonneau Dominique, Cairns Robyn, Cransberg Karlien, Fründ Stefan, Fryssira Helen, Goodman David, Helmke Knut, Hinkelmann Barbara, Lama Guiliana, Lamfers Petra, Loirat Chantal, Majore Silvia, Mayfield Christy, Pontz Bertram F, Rusu Cristina, Saraiva Jorge M, Schmidt Beate, Shoemaker Lawrence, Sigaudy Sabine, Stajic Natasa, Taha Doris, Boerkoel Cornelius F
Abstract excerpt
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromat...
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