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Hum Mol Genet. 2016 Oct 1;25(R2):R86-R93. Epub 2016 Jun 26.

Modeling craniofacial and skeletal congenital birth defects to advance therapies.

Author information

1
Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.
2
Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
3
Departments of Pediatrics and Human Genetics, David Geffen School of Medicine and InterDepartmental Program Biomedical Engineering, Henry Samulei School of Engineering and Applied Sciences, University of California, Los Angeles, CA, USA.
4
Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA Department of Pediatrics and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA ophir.klein@ucsf.edu.

Abstract

Craniofacial development is an intricate process of patterning, morphogenesis, and growth that involves many tissues within the developing embryo. Genetic misregulation of these processes leads to craniofacial malformations, which comprise over one-third of all congenital birth defects. Significant advances have been made in the clinical management of craniofacial disorders, but currently very few treatments specifically target the underlying molecular causes. Here, we review recent studies in which modeling of craniofacial disorders in primary patient cells, patient-derived induced pluripotent stem cells (iPSCs), and mice have enhanced our understanding of the etiology and pathophysiology of these disorders while also advancing therapeutic avenues for their prevention.

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