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European Journal of Pediatrics|December 17, 2009
Schimke immunoosseous dysplasia: defining skeletal featuresKshamta B Hunter, Thomas Lücke, Jürgen Spranger, et al.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Human Mutation|November 8, 2006
Schimke immunoosseous dysplasia: suggestions of genetic diversityJ Marietta Clewing, Helen Fryssira, David Goodman, et al.
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