Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) is a syndrome of fetal and infantile lethality with craniosynostosis and skeletal anomalies. It has been reported that mutations in CYP26B1 cause this syndrome. CYP26B1 encodes the retinoic acid-degrading enzyme. Retinoic acid is well-known to play roles in vertebrate limb development and embryonic exposures have teratogenic effects on the limb and craniofacial skeleton.
Laue K, Pogoda HM, Daniel PB, van Haeringen A, Alanay Y, von Ameln S, Rachwalski M, Morgan T, Gray MJ, Breuning MH, Sawyer GM, Sutherland-Smith AJ, Nikkels PG, Kubisch C, Bloch W, Wollnik B, Hammerschmidt M, Robertson SP
タイトル
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.
