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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

✍ Scribed by Semina, Elena V.; Ferrell, Robert E.; Mintz-Hittner, Helen A.; Bitoun, Pierre; Alward, Wallace Lee M.; Reiter, Rebecca S.; Funkhauser, Carrie; Daack-Hirsch, Sandra; Murray, Jeffrey C.

Book ID: 109826616
Publisher: Nature Publishing Group
Year: 1998
Tongue: English
Weight: 354 KB
Volume: 19
Category: Article
ISSN: 1061-4036
DOI: 10.1038/527

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## Abstract 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 mutatio