Schimke immuno-osseous dysplasia
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
R561C missense mutation in the <span class="gene" id="16237566-0-31-39">SMARCAL1</span> gene associated with mild <span class="disease" id="16237566-0-66-98">Schimke immuno-osseous dysplasia</span>.