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Letter

Nature Genetics 32, 285–289 (1 October 2002) | doi:10.1038/ng985

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo , Brian C. Schutte , Rebecca J. Richardson , Bryan C. Bjork , Alexandra S. Knight , Yoriko Watanabe , Emma Howard , Renata L.L. Ferreira de Lima , Sandra Daack-Hirsch , Achim Sander , Donna M. McDonald-McGinn , Elaine H. Zackai , Edward J. Lammer , Arthur S. Aylsworth , Holly H. Ardinger , Andrew C. Lidral , Barbara R. Pober , Lina Moreno , Mauricio Arcos-Burgos , Consuelo Valencia , Claude Houdayer , Michel Bahuau , Danilo Moretti-Ferreira , Antonio Richieri-Costa , Michael J. Dixon & Jeffrey C. Murray

Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix–turn–helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-α and -β after viral infection, but the function of IRF6 is unknown.