Article
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Mar 2006
Idrees Faisal, Bloch-Zupan Agnes, Free Samantha L, Vaideanu Daniela, Thompson Pamela J, Ashley Paul, Brice Glen, Rutland Paul, Bitner-Glindzicz Maria, Khaw Peng T, Fraser Scott, Sisodiya Sanjay M, Sowden Jane C
Abstract excerpt
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 mutation in the PITX2...
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