A novel homeobox mutation in the PITX2 g
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Faisal Idrees; Agnes Bloch-Zupan; Samantha L. Free; Daniela Vaideanu; Pamela J.
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Article
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2006
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John Wiley and Sons
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English
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## Abstract AxenfeldโRieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio