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A novel frameshift mutation ofFOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus

โœ Scribed by Yildirim-Toruner, Cagri ;Subramanian, Kavitha ;El Manjra, Lamya ;Chen, Emily ;Goldstein, Stanley ;Vitale, Emilia


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
208 KB
Volume
131A
Category
Article
ISSN
0148-7299

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## Abstract Axenfeldโ€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 mutatio