Associated Papers
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA et al.
Molecular Genetics & Genomic Medicine, 2020
32558391 (PubMed )
Supplement: MGG3-8-e1355-s001.xlsx › Sheet2
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
Busche A et al.
American Journal of Medical Genetics. Part A, 2016
Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
Leslie EJ et al.
American Journal of Medical Genetics. Part A, 2015
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
Leslie EJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
23154523 (PubMed )
Supplement: gim2012141x1.pdf
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
Matsuzawa N et al.
American Journal of Medical Genetics. Part A, 2010
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