Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations

摘要: Congenital limb malformations are the second most common class of human birth defects and can be caused both by environmental genetic factors. While it is known that some result coding mutations disrupt genes, identifying causal mutation in a patient with an isolated malformation often difficult. This may due part to growing number cases shown nucleotide changes gene regulatory elements. These affect expression developing cause dramatic patterning, leading congenital malformations. In this chapter, we will review characterized also provide evidence additional enhancers could other