SMARCAL1 and Schimke immuno-osseous dysplasia: To confirm the diagnosis molecularly, we sequenced PCR amplification products for the coding exons of SMARCAL1. This identified mutations c.2542G > T (p. Glu848X) in exon 17 and c.1439C > T (p.Pro480Leu) in exon 8; both of these mutations have been described previously in patients with SIOD [20,21].