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

• Asıl Yazarlar: Dufier Jean-Louis (Yazar), Vidaud Michel (Yazar), Halimi Philippe (Yazar), Rapp Philippe (Yazar), Zeghidi Hatem (Yazar), Arbogast Laurence (Yazar), Laurendeau Ingrid (Yazar), Vieira Véronique (Yazar), Roche Olivier (Yazar), Bieche Ivan (Yazar), de la Houssaye Guillaume (Yazar), Menasche Maurice (Yazar), Abitbol Marc (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2006-11-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

<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...