A Missense <i>T</i>(<i>Brachyury</i>) Mutation Contributes to Vertebral Malformations

Abstract excerpt

No major susceptibility genes for sporadically occurring congenital vertebral malformations (CVM) in humans have been identified to date. Body patterning genes whose mutants cause axial skeletal anomalies in mice are candidates for human CVM susceptibility. T (also known as Brachyury) and TBX6 are critical genes needed to establish mesodermal identity. We hypothesized that mutations in T and/or TBX6 contribute to...

Topics

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

• Share to Congenital Anomalies and Fetal Surgery
• Share to Craniofacial Disorders and Treatments
• Share to Prenatal Screening and Diagnostics