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      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.

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          Abstract

          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 families with Van der Woude and between one collection of families with popliteal pterygium syndrome.

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          Author and article information

          Journal
          Genet Med
          Genetics in medicine : official journal of the American College of Medical Genetics
          Ovid Technologies (Wolters Kluwer Health)
          1530-0366
          1098-3600
          Apr 2009
          : 11
          : 4
          Affiliations
          [1 ] Serviço de Aconselhamento Genético, UNESP, Botucatu, Sao Paulo, Brazil.
          Article
          NIHMS114375 S1098-3600(21)02625-3
          10.1097/GIM.0b013e318197a49a
          2789395
          19282774
          c66ba0a8-50cc-4806-b0f5-04b669e1758b
          History

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