Identification of the first intragenic deletion of the <it>PITX2 </it>gene causing an Axenfeld-Rieger Syndrome: case report

Identification of the first intragenic deletion of the <it>PITX2 </it>gene causing an Axenfeld-Rieger Syndrome: case report

<p>Abstract</p> <p>Background</p> <p>Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in...

Full description

Bibliographic Details
Main Authors: Dufier Jean-Louis, Vidaud Michel, Halimi Philippe, Rapp Philippe, Zeghidi Hatem, Arbogast Laurence, Laurendeau Ingrid, Vieira Véronique, Roche Olivier, Bieche Ivan, de la Houssaye Guillaume, Menasche Maurice, Abitbol Marc
Format: Article
Language:English
Published: BMC 2006-11-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/7/82

Internet

http://www.biomedcentral.com/1471-2350/7/82

Similar Items