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
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter L et al.
Molecular Syndromology, 2010
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
Select a paper to view details