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Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.


ABSTRACT: Craniofacial abnormalities are among the most common features of human genetic syndromes and disorders. The etiology of these conditions is often complex, influenced by both genetic context and the environment. Frequently, craniofacial abnormalities present as part of a syndrome with clear comorbid phenotypes, providing additional insight into mechanisms of the causative gene or pathway. The mouse has been a key tool in our understanding of the genetic mechanisms of craniofacial development and disease, and can provide excellent models for human craniofacial abnormalities. While powerful genetic engineering tools in the mouse have contributed significantly our understanding of craniofacial development and dysmorphology, forward genetic approaches provide an unbiased means to identify new g

SUBMITTER: Palmer K 

PROVIDER: S-EPMC4733616 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature