Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

• Main Authors: Semina Elena V (Author), Murray Jeffrey C (Author), Alward Wallace LM (Author), Maciolek Nicole L (Author), McNally Mark T (Author)
• Format: Book
• Published: BMC, 2006-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Axenfeld-Rieger syndrome (ARS) is associated with mutations in the <it>PITX2 </it>gene that encodes a homeobox transcription factor. Several intronic <it>PITX2 </it>mutations have been reported in Axenfeld-Rie...