Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A.
Int J Oral Maxillofac Surg. 2018 Apr;47(4):421-427. doi: 10.1016/j.ijom.2017.10.002. Epub 2017 Oct 28.
PMID:29089202
Van der Woude syndrome.
Kulkarni ML, Sureshkumar C, Venkataramana V.
Ann Dent. 1995 Summer-Fall;54(1-2):34-5.
PMID:8572542
Van der Woude Syndrome: IRF6 Mutations.
Sunny AP, Arunachal G, Danda S.
Indian J Pediatr. 2019 Nov;86(11):1070-1071. doi: 10.1007/s12098-019-03058-4. Epub 2019 Aug 29.
PMID:31468312
Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.