Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

doi:10.1177/0022034516678829

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Article

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

Journal of dental research - 1 Feb 2017

Khandelwal K D, Ishorst N, Zhou H, Ludwig K U, Venselaar H, Gilissen C, Thonissen M, van Rooij I A L M, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner H G, Mangold E, Hoischen A, van Bokhoven H, Carels C E L

Abstract excerpt

Common variants in interferon regulatory factor 6 ( IRF6) have been associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) as well as with tooth agenesis (TA). These variants contribute a small risk towards the 2 congenital conditions and explain only a small percentage of heritability. On the other hand, many IRF6 mutations are known to be a monogenic cause of disease for syndromic...

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PMID: 27834299
DOI: 10.1177/0022034516678829

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