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

• 主要な著者: Dufier Jean-Louis (著者), Vidaud Michel (著者), Halimi Philippe (著者), Rapp Philippe (著者), Zeghidi Hatem (著者), Arbogast Laurence (著者), Laurendeau Ingrid (著者), Vieira Véronique (著者), Roche Olivier (著者), Bieche Ivan (著者), de la Houssaye Guillaume (著者), Menasche Maurice (著者), Abitbol Marc (著者)
• フォーマット: 図書
• 出版事項: BMC, 2006-11-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...