Ontology highlight
ABSTRACT:
SUBMITTER: Morimoto M
PROVIDER: S-EPMC3383106 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Journal of dental research 20120701 7 Suppl
Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression o ...[more]