Article
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Molecular vision - 1 Dec 2006
Vieira Veronique, David Gabriel, Roche Olivier, de la Houssaye Guillaume, Boutboul Sandrine, Arbogast Laurence, Kobetz Alexandra, Orssaud Christophe, Camand Olivier, Schorderet Daniel F, Munier Francis, Rossi Annick, Delezoide Anne Lise, Marsac Cecile, Ricquier Daniel, Dufier Jean-Louis, Menasche Maurice, Abitbol Marc
Abstract excerpt
PURPOSE: Axenfeld Rieger syndrome (ARS) is an autosomal dominant inherited disorder affecting development of the ocular anterior chamber, abdomen, teeth and facial structures. The PITX2 gene is a major gene encoding a major transcription factor associated with ARS. METHODS: ARS patients were collected from six unrelated families. Patients and their families were ophthalmologically phenotyped and their blood was...
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