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Genetic and environmental factors in human cleft lip and palate

Vieira, AR (2012) Genetic and environmental factors in human cleft lip and palate. Frontiers of Oral Biology, 16. 19 - 31. ISSN 1420-2433

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Cleft lip and palate is the most common craniofacial birth defect and its etiology has been the focus of many reports in the literature. It is well accepted that both genetics and environment play a role in the condition, however we still have not been able to translate what have been learned into clinical applications. This paper provides an interpretation of the latest research findings in humans and a perspective for where the field is going. The latest effort in gene identification and the associations between isolated cleft lip and palate and the loci harboring IRF6 (1q32) and 8q24.21 are highlighted, as well as the latest insight from more sophisticated phenotypical characterization and the inclusion of covariables related to the environment in the analysis of genetic variation. Copyright © 2012 S. Karger AG, Basel.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Date: 3 December 2012
Date Type: Publication
Journal or Publication Title: Frontiers of Oral Biology
Volume: 16
Page Range: 19 - 31
DOI or Unique Handle: 10.1159/000337521
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 1420-2433
MeSH Headings: Chromosome Mapping; Chromosomes, Human, Pair 1--genetics; Chromosomes, Human, Pair 8--genetics; Cleft Lip--etiology; Cleft Lip--genetics; Cleft Palate--etiology; Cleft Palate--genetics; Gene-Environment Interaction; Genetic Association Studies; Genetic Variation--genetics; Humans; Interferon Regulatory Factors--genetics; Phenotype
PubMed ID: 22759667
Date Deposited: 24 Sep 2012 19:09
Last Modified: 20 Feb 2020 13:55


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