SMARCAL1 and Schimke immuno-osseous dysplasia: The SIOD disease is frequently reported to be caused by biallelic mutations in the gene SMARCAL1 (SWI/SNF-related, matrix associated, actin-dependent regulator of chromatin, subfamily A-like 1), a member of the SNF2 family of proteins that regulates gene transcription, DNA replication, repair and recombination in the context of chromatin (Bansbach et al., 2010).