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Orthod Craniofac Res. 2009 Aug;12(3):212-20. doi: 10.1111/j.1601-6343.2009.01455.x.

Genetic studies of craniofacial anomalies: clinical implications and applications.

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  • 1Human Craniofacial Genetics Section, Skeletal and Craniofacial Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA. thart@mail.nih.gov


The objective of the study was to overview the role of genetic research in fostering translational studies of craniofacial diseases of dental interest. Background information is presented to illustrate influences affecting genetic research studies of Mendelian diseases. Genetic studies of amelogenesis imperfecta, dentinogenesis imperfecta, hereditary gingival fibromatosis and Papillon Lefèvre syndrome are reviewed. Findings are presented to illustrate how translational applications of clinical and basic research may improve clinical care. Clinical and basic science research has identified specific genes and mutations etiologically responsible for amelogenesis imperfecta, dentinogenesis imperfecta, hereditary gingival fibromatosis and Papillon Lefèvre syndrome. These findings are enabling researchers to understand how specific genetic alterations perturb normal growth and development of dental tissues. Identification of the genetic basis of these conditions is enabling clinicians and researchers to more fully understand the etiology and clinical consequences of these diseases of dental importance. Findings from genetic studies of dental diseases provide a basis for diagnostic genetic testing and development of therapeutic intervention strategies directed at the underlying disease etiology. These studies are advancing our understanding of the development of dental tissues in health and disease. The dental community must consider how to incorporate these developments into effective disease prevention paradigms to facilitate the diagnosis and treatment of individuals with genetic diseases.

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