Article
An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.
Birth defects research. Part A, Clinical and molecular teratology - 1 Mar 2006
Saadi Irfan, Toro Rafael, Kuburas Adisa, Semina Elena, Murray Jeffrey C, Russo Andrew F
Abstract excerpt
BACKGROUND: Mutations in the PITX2 homeobox gene are known to contribute to Axenfeld-Rieger syndrome (ARS), an autosomal-dominant developmental disorder. Although most mutations are in the homeodomain and result in a loss of function, there is a growing subset in the C-terminal domain that has not yet been characterized. These mutations are of particular interest because the C-terminus has both inhibitory and...
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