Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis [Genetics]

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed...

Source: Proceedings of the National Academy of Sciences - July 22, 2019 Category: Science Authors: Andrew T. Timberlake, Sheng Chih Jin, Carol Nelson-Williams, Robin Wu, Charuta G. Furey, Barira Islam, Shozeb Haider, Erin Loring, Amy Galm, Yale Center for Genome Analysis, Derek M. Steinbacher, Dawid Larysz, David A. Staffenberg, Roberto L. Flores, Edu Tags: Biological Sciences Source Type: research