Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
Ghassibé
M
M
Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium.
Revencu
N
N
Bayet
B
B
Gillerot
Y
Y
Vanwijck
R
R
Verellen-Dumoulin
C
C
Vikkula
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004247:DNA / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005799:Genes, Dominant; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D050835:Interferon Regulatory Factors; D008046:Lip / Q000002:abnormalities*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011485:Protein Binding / Q000235:genetics; D017434:Protein Structure, Tertiary / Q000235:genetics; D011506:Proteins / Q000378:metabolism; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D014609:Uvula / Q000002:abnormalities*
D004268:DNA-Binding Proteins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D011506:Proteins; D014157:Transcription Factors; D004247:DNA