van der Woude sendromu | Demarquay | popliteal pterygium sendromu |

van der Woude sendromu (Demarquay sendromu)

Kalıtsal - AD

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Yarık dudak

Yarık damak

Alt dudakta fistüller

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Hipodonti

Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics, 32(2):285-289, 2002
de Medeiros F, Hansen L, Mawlad E, et al. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. American Journal of Medical Genetics A, 146A: 1605-1608, 2008
de Lima RL, Hoper SA, Ghassibe M, et al. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine, 11(4):241–247, 2009
Ferrero GB, Baldassarre G, Panza E, et al. A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. European Journal of Pediatrics, 169:223–228, 2010