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Dev Dyn. 2011 May;240(5):920-30. doi: 10.1002/dvdy.22535. Epub 2011 Jan 11.

cis-regulatory mutations are a genetic cause of human limb malformations.

Author information

1
Department of Bioengineering and Therapeutic Sciences, and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.

Abstract

The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves.

PMID:
21509892
PMCID:
PMC3174732
DOI:
10.1002/dvdy.22535
[Indexed for MEDLINE]
Free PMC Article

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