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.

doi:10.1097/GIM.0b013e318197a49a

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Article

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 : official journal of the American College of Medical Genetics - 1 Apr 2009

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

Abstract excerpt

PURPOSE: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of...

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PMID: 19282774
DOI: 10.1097/GIM.0b013e318197a49a
PMCID: PMC2789395

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