Gain-of-function induced defects by PITX2 in eye and limb development
My research has been focused on eye and limb development with regard to the transcription factor PITX2. In the first paper we present an Axenfeld-Rieger syndrome PITX2 gain-of-function eye mouse model. Axenfeld-Rieger syndrome is a rare autosomal disorder affecting the development of eyes, teeth and abdomen. The eye defects consist of anomalies in the anterior segment. In addition, almost 50% of A