Schimke immunoosseous dysplasia: Suggestions of genetic diversity

Autor: Clewing, J. Marietta Fryssira, Helen Goodman, David and Smithson, Sarah F. Sloan, Emily A. Lou, Shu Huang, Yan and Chow, Kunho Luecke, Thomas Alpay, Harika Andre, Jean-Luc and Asakura, Yumi Biebuyck-Gouge, Nathalie Bogdanovic, Radovan and Bonneau, Dominique Cancrini, Caterina Cochat, Pierre and Cockfield, Sandra Collard, Laure Cordeiro, Isabel and Cormier-Daire, Valerie Cransberg, Karlien Cutka, Karel and Deschenes, Georges Ehrich, Jochen H. H. Frund, Stefan and Georgaki, Helen Guillen-Navarro, Encarna Hinkelmann, Barbara and Kanariou, Maria Kasap, Belde Kilic, Sara Sebnem Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia and Milford, David Morin, Denis Ozdemir, Nihal Pontz, Bertram F. and Proesmans, Willem Psoni, Stavroula Reichenbach, Herbert and Reif, Silke Rusu, Cristina Saraiva, Jorge M. Sakallioglu, Onur Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine and Smith, Graham Sotsiou, Flora Stajic, Natasa Stein, Anja and Stray-Pedersen, Asbjorg Taha, Doris Taque, Sophie Tizard, Jane Tsimaratos, Michel Wong, Newton A. C. S. Boerkoel, Cornelius F.

Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiplayseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::3c78f23575b16c29f3bdf0af59eebbfc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3116329

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Schimke immunoosseous dysplasia: defining skeletal features

Autor: Lawrence R. Shoemaker, Jürgen Spranger, Robyn Cairns, Cristina Rusu, Jean Luc André, Barbara Hinkelmann, Beate Schmidt, Bertram F. Pontz, Doris Taha, Helen Fryssira, Guiliana Lama, Thomas Lücke, Jorge M. Saraiva, Stefan Fründ, David Goodman, Knut Helmke, Natasa Stajic, Petra Lamfers, Chantal Loirat, Sabine Sigaudy, Harika Alpay, Radovan Bogdanovic, Yumi Asakura, Silvia Majore, Kshamta B. Hunter, Dominique Bonneau, Sarah F. Smithson, Christy Mayfield, Cornelius F. Boerkoel, Karlien Cransberg

Publikováno v: European Journal of Pediatrics
European Journal of Pediatrics, 2010, 169 (7), pp.801-811. ⟨10.1007/s00431-009-1115-9⟩
European Journal of Pediatrics, 169, 801-811. Springer-Verlag

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-a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75061c6bbd7529a743f53f8089870c9d
https://doi.org/10.1007/s00431-009-1115-9