Article
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
Investigative ophthalmology & visual science - 1 Aug 2000
Perveen R, Lloyd I C, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black G C
Abstract excerpt
PURPOSE: Rieger syndrome is an autosomal dominant condition characterized by a variable combination of anterior segment dysgenesis, dental anomalies, and umbilical hernia. To date, reports have shown mutations within the PITX2 gene associated with Rieger syndrome, iridogoniodysgenesis, and iris hypoplasia. The purposes of this study were to determine the range of expression and intrafamilial variability of PITX2...
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