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Axenfeld-Rieger Syndrome: Differential Diagnosis in Cases of Oligodontia

Book ID
119336405
Publisher
Elsevier
Year
2012
Tongue
English
Weight
52 KB
Volume
114
Category
Article
ISSN
2212-4403

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An unusual class of PITX2 mutations in A
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome
โœ Irfan Saadi; Rafael Toro; Adisa Kuburas; Elena Semina; Jeffrey C. Murray; Andrew ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 358 KB

## 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