Fig. 4From: A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case reportSchematic diagram of SMARCAL1 gene. Functional structure domains of SMARCAL1gene from exon 12 to exon 16 which contains mutant sites (R654C and R817H) of our report, respectively. Orange represents HARP2 domains, yellow is symbolic of SNF2 N-terminal domain, green stands for DNA/RNA helicase C-terminal domainBack to article page