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

Autor: de Lima, Renata L. L. Ferreira, Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo, Murray, Jeffrey C., Schutte, Brian C. ^*

Publikováno v: In Genetics in Medicine April 2009 11(4):241-247

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NOVEL GLOMULIN MUTATIONS, WHICH ALTER VASCULAR SMOOTH MUSCLE CELL DIFFERENTIATION AND RESULT IN GLOMUVENOUS MALFORMATIONS, REVEAL STRONG FOUNDER EFFECT FOR TWO OF THE MUTATIONS

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Publikováno v: In Cardiovascular Pathology 2004 13(3) Supplement:22-22

Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

Autor: Ghassibe M; Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain-Laboratory of Human Molecular genetics, Brussels, Belgium. Michella.Ghassibe@bchm.ucl.ac.be, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M

Publikováno v: Human genetics [Hum Genet] 2003 Nov; Vol. 113 (6), pp. 558.