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Last Posted: Nov 30, 2023

• [Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene].
  Xiangyu Zhu, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 0 (12) 1517-1520
• A novel non-coding RNA within an intron of CDH2 and association of its SNP with non-syndromic cleft lip and palate.
  Kumari Priyanka, et al. Gene 2018 0 123-128
• Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome.
  Yu Yanqin, et al. Molecular genetics & genomic medicine 2020 0 (5) e1196
• [Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation].
  Du Xin-Ya, et al. Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology 2018 0 (6) 623-627
• Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.
  Manjegowda Dinesh S, et al. Genetics research 2015 0 e12
• Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients.
  Phan Hoanh Duy Ba, et al. Molecular biology reports 2022 12
• Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
  Velázquez-Aragón José A, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020 12 1055665620980238
• Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.
  Eshete M A, et al. Journal of dental research 2017 9 22034517729819
• Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population.
  He Miao, et al. PloS one 2016 0 (7) e0159940
• Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.
  Wang Yirui, et al. Gene 2016 4
• Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
  Mangold Elisabeth, et al. American journal of human genetics 2016 3
• Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.
  Charzewska Agnieszka, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2015 9 (5) e161-7
• Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
  Leslie Elizabeth J, et al. American journal of medical genetics. Part A 2013 10 (10) 2535-44
• Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.
  Pegelow M, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2013 2
• Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.
  Salahshourifar Iman, et al. European journal of medical genetics 2012 6 (6-7) 389-93
• Van der Woude syndrome
  From NCATS Genetic and Rare Diseases Information Center
• Van der Woude syndrome 2
  From NCATS Genetic and Rare Diseases Information Center
• The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population.
  Diercks GR, et al. The Laryngoscope 2009 6
• Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population.
  Vieira Alexandre R, et al. Archives of oral biology 2008 8 (8) 780-4
• Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.
  Jugessur Astanand, et al. Genetic epidemiology 2008 7 (5) 413-24

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