Article
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.
Human molecular genetics - 1 May 2000
Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems P J, Van Hul W
Abstract excerpt
Foramina parietalia permagna (FPP) is an autosomal dominant condition characterized by cranial defects of the parietal bones. It can be present as an isolated feature, but it is also one of the characteristics of a contiguous gene syndrome associated with deletions on chromosome 11p11-p12. One of the proteins known to be involved in skull development is the MSX2 homeobox protein. Previously, MSX2 has been shown...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.