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cis-regulatory mutations are a genetic cause of human limb malformations VanderMeer JE; Ahituv NDev Dyn 2011[May]; 240 (5): 920-30The 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.|Gene Expression Regulation, Developmental/genetics/physiology[MESH]|Humans[MESH]|Limb Deformities, Congenital/*genetics[MESH]|Mutation[MESH]|Regulatory Sequences, Nucleic Acid/*genetics[MESH] |
