Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
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Author / Creator
Kondo, Shinji , Schutte, Brian C. , Richardson, Rebecca J. , Bjork, Bryan C. , Knight, Alexandra S. , Watanabe, Yoriko , Howard, Emma , Ferreira de Lima, Renata L.L. , Daack-Hirsch, Sandra , Sander, Achim , McDonald-McGinn, Donna M. , Zackai, Elaine H. , Lammer, Edward J. , Aylsworth, Arthur S. , Ardinger, Holly H. , Lidral, Andrew C. , Pober, Barbara R. , Moreno, Lina , Arcos-Burgos, Mauricio , Valencia, Consuelo , Houdayer, Claude , Bahuau, Michel , Moretti-Ferreira, Danilo , Richieri-Costa, Antonio , Dixon, Michael J. and Murray, Jeffrey C.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publication information
Publisher
New York: Nature Publishing Group US
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More information
Scope and Contents
Contents
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
1
, but the function of IRF6 is unknown. The gene encoding IRF6 is...
Alternative Titles
Full title
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
Authors, Artists and Contributors
Author / Creator
Schutte, Brian C.
Richardson, Rebecca J.
Bjork, Bryan C.
Knight, Alexandra S.
Watanabe, Yoriko
Howard, Emma
Ferreira de Lima, Renata L.L.
Daack-Hirsch, Sandra
Sander, Achim
McDonald-McGinn, Donna M.
Zackai, Elaine H.
Lammer, Edward J.
Aylsworth, Arthur S.
Ardinger, Holly H.
Lidral, Andrew C.
Pober, Barbara R.
Moreno, Lina
Arcos-Burgos, Mauricio
Valencia, Consuelo
Houdayer, Claude
Bahuau, Michel
Moretti-Ferreira, Danilo
Richieri-Costa, Antonio
Dixon, Michael J.
Murray, Jeffrey C.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3169431
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3169431
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng985
