Associated Papers
Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.
Yang CW et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2024
36866619 (PubMed )
Supplement: sj-docx-1-cpc-10.1177_10556656231157575.docx
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
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.
Eliezer DD et al.
Bmj Case Reports, 2019
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
27699475 (PubMed )
Supplement: 439_2016_1733_MOESM4_ESM.xlsx › Table_Candidate_Gene_Mutations
Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.
Malik S et al.
Clinical Genetics, 2014
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
de Lima RL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.
Little HJ et al.
Human Molecular Genetics, 2009
Identification of IRF6 gene variants in three families with Van der Woude syndrome.
Tan EC et al.
International Journal of Molecular Medicine, 2008
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
Brosch S et al.
International Journal of Molecular Medicine, 2007
Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
Item CB et al.
International Journal of Molecular Medicine, 2005
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