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PURPOSE To assess the effects of previously uncharacterized PITX2 missense mutations found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the C-terminal region of PITX2. METHODS Recombinant PITX2 proteins were analyzed with the use of cellular immunofluorescence, electrophoretic mobility shift, reporter transactivation,(More)
Axenfeld-Rieger 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 mutation in the PITX2 homeodomain, which is associated with brain abnormalities.(More)
Coronoid hyperplasia is a rare disorder, which effectively is a mechanical problem associated with limited mouth opening. In some cases, enlarged coronoid pushes the zygoma forward causing facial asymmetry. This article looks at the case of a 15-year-old boy reporting in OPD of Government College of Dentistry, Indore, with chief complaint of facial(More)
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