Localization of <i>SMARCAL1</i> mutations detected in 34 subjects with Schimke immuno-osseous dysplasia.

<p>Legend: : recurrent mutations detected in at least three unrelated patients; Green font: novel mutations described for the first time in the current study. Reference sequence: ENST00000357276; NM_014140.</p

Phenotypic features of patients with Schimke immuno-osseous dysplasia (n = 34).

<p>Phenotypic features of patients with Schimke immuno-osseous dysplasia (n = 34).</p