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Schimke "immuno-osseous" dysplasia
Did you mean scheie "immune-osseous" dysplasia?
- Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. People with ... 5 feet. Additional skeletal problems in people with Schimke immuno-osseous dysplasia include abnormalities of the hip joints and the ...
- ... the SMARCAL1 gene have been found to cause Schimke immuno-osseous dysplasia. This condition is characterized by short stature, kidney ... a weakened immune system. The variants associated with Schimke immuno-osseous dysplasia disrupt the usual functions of the SMARCAL1 protein ...