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To examine the role of the IRF6 mutations in Polish families with Van der Woude syndrome and popliteal pterygium syndrome and to determine the effect of IRF6 single nucleotide polymorphisms (rs7552506, rs2013162, and rs2235375) on cleft lip and/or palate susceptibility.

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients with Orofacial Clefting