title: Enhancer mutations and phenotype modularity.
abstract: Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.
authors.affiliation: University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Gordon
authors.affiliation: University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D004742:Enhancer Elements, Genetic / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities*; D010182:Pancreatic Diseases / Q000151:congenital* / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors; C062602:transcription factor PTF1