Van der Woude Syndrome: IRF6 Mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s12098-019-03058-4.pdf
Reference5 articles.
1. Van der Woude A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet. 1954;6:244–56.
2. Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002;32:285–9.
3. Ali A, Singh SK, Raman R. Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India. Cleft Palate Craniofac J. 2009;46:541–4.
4. Moghe GA, Mauli S. IRF6 mutations may not be a major cause of Van der Woude syndrome in India. Eur J Pediatr. 2011;170:129.
5. Janku P, Robinow M, Kelly T, Bralley R, Baynes A, Edgerton MT. The van der Woude syndrome in large kindred: variability, penetrance, genetic risks. Am J Med Genet. 1980;5:117–23.
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1. Analysis of phenotypic characteristics and mutation patterns in syndromic craniofacial anomalies: Insights from a tertiary care medical genetics unit in South India;Journal of Cleft Lip Palate and Craniofacial Anomalies;2024-07
2. Dermatoses of the Oral Cavity and Lips;Rook's Textbook of Dermatology;2024-03-19
3. Uncovering the Pathogenesis of Orofacial Clefts Using Bioinformatics Analysis;Journal of Craniofacial Surgery;2022-02-09
4. Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome;Molecular Genetics & Genomic Medicine;2020-06-17
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