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Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development.

Original publication

DOI

10.1093/hmg/ddv228

Type

Journal article

Journal

Hum Mol Genet

Publication Date

15/10/2015

Volume

24

Pages

R50 - R59

Keywords

Animals, Branchial Region, Craniofacial Abnormalities, Disease Models, Animal, Genomics, Humans, Morphogenesis, Palate, Skull