Journal
NATURE REVIEWS GENETICS
Volume 12, Issue 3, Pages 167-178Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2933
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Funding
- Medical Research Council [G0901539]
- Wellcome Trust [082, 868]
- US National Institutes of Health [P50-DE016215, R01-DE08559, R01-DE016148, R01-DE014581, U01-DE018993, U01-DE20057]
- Healing Foundation
- Manchester NIHR Biomedical Research Centre
- MRC [G0901539, G1001601] Funding Source: UKRI
- Medical Research Council [G1001601, G0901539] Funding Source: researchfish
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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.
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