ArticleJournal of oral and maxillofacial pathology : JOMFP2012
A comprehensive review of the genetic basis of cleft lip and palate.
Article in Journal of oral and maxillofacial pathology : JOMFP, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 135 citations in OpenAlex.
- Advanced Strategies in the Repair of Alveolar Cleft Defects: Biological Approaches, Biomaterials, and Future Perspectives.Progress in molecular and subcellular biology · 2026Review
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Applications of artificial intelligence in diagnosis and treatment planning of orthodontics: a narrative review.The Saudi dental journal · 2025Review
- Treatment perspectives and concerns among pediatric cleft lip and palate patients: a cross-sectional study.BMC oral health · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.Human molecular genetics · 2025Article
- Mortality in Cleft Lip and Palate Patients: A Systematic Review and Meta-analysis.Plastic and reconstructive surgery. Global open · 2025Article
- The Role of Genetics in Human Oral Health: A Systematic-Narrative Review.Dentistry journal · 2025Review
- Prenatal growth patterns of the upper jaw complex with implications for laryngeal echolocation in bats.Journal of anatomy · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.bioRxiv : the preprint server for biology · 2025Article
- Epidemiologic trends of cleft lip and/or palate in Switzerland.BMC oral health · 2025Article
- Assessment of the Mandibular Osseous Architecture in Cleft Lip and Palate Using Fractal Dimension Analysis: A Pilot Study.Journal of clinical medicine · 2024Article
- Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.Journal of clinical medicine · 2024Article
- Article
- The evaluation of superior semicircular canal in patients with unilateral cleft lip and palate using CBCT.Oral radiology · 2024Article
- Skeletal facial asymmetry: reliability of manual and artificial intelligence-driven analysis.Dento maxillo facial radiology · 2024Article
- An improved multicellular human organoid model for the study of chemical effects on palatal fusion.Birth defects research · 2023Article
- Article
- Cleft Palate Syndrome in the Endangered Spectacled Flying Fox (Veterinary sciences · 2023Article
- Alterations in DNA Methylation in Orofacial Clefts.International journal of molecular sciences · 2022Review
- Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cleft lip and palate (CLP) are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed) from January 1986 to December 2010 using the key words: 'cleft lip,' 'cleft palate,' 'etiology,' and 'genetics.' The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them-T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors) will be useful for genetic counseling and the development of future preventive measures.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.