Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.

Abstract excerpt

Craniosynostosis, defined by premature fusion of one or multiple cranial sutures, is a common congenital defect affecting more than 1/2000 infants and results in restricted brain expansion. Single gene mutations account for 15%-20% of cases, largely as part of a syndrome, but the majority are nonsyndromic with complex underlying genetics. We hypothesized that the two noncoding genomic regions identified by a GWAS...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Animals, Genetically Modified
• Share to Bone Morphogenetic Protein 2