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Axenfeld-Rieger syndrome in the age of molecular genetics

โœ Scribed by Wallace L.M Alward


Book ID
117017245
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
236 KB
Volume
130
Category
Article
ISSN
0002-9394

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An unusual class of PITX2 mutations in A
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## Abstract ## BACKGROUND Mutations in the __PITX2__ homeobox gene are known to contribute to Axenfeldโ€Rieger syndrome (ARS), an autosomalโ€dominant developmental disorder. Although most mutations are in the homeodomain and result in a loss of function, there is a growing subset in the Cโ€terminal d