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Nat Rev Genet. 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933.

Cleft lip and palate: understanding genetic and environmental influences.

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1
Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.

Abstract

Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.

PMID:
21331089
PMCID:
PMC3086810
DOI:
10.1038/nrg2933
[Indexed for MEDLINE]
Free PMC Article

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