Article
Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Acta ophthalmologica - 1 Nov 2016
Seifi Morteza, Footz Tim, Taylor Sherry A M, Elhady Ghada M, Abdalla Ebtesam M, Walter Michael A
Abstract excerpt
PURPOSE: Mutations in the bicoid-like transcription factor PITX2 gene often result in Axenfeld-Rieger syndrome (ARS), an autosomal-dominant inherited disorder. We report here the discovery and characterization of novel PITX2 deletions in a small kindred with ARS. METHODS: Two familial patients (father and son) from a consanguineous family were examined in the present study. Patient DNA samples were screened for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.