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Results 1 - 1 of 1 for Schimke "immuno-osseous" dysplasia
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  1. SMARCAL1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/smarcal1 - Genetics