Deguchi, K., Clewing, J.M., Elizondo, L.I., Hirano, R., Huang, C., Choi, K., ...
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of...