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

by 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
Published 2006-11-01

Eight previously unidentified mutations found in the <it>OA1 </it>ocular albinism gene

by Dufier Jean-Louis, Kaplan Josseline, Mezer Eedy, Said Edith, Lacombe Didier, Sutherland Joanne, Levin Alex V, Héon Elise, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Dollfus Hélène, Marchant Dominique, Jaliffa Carolina, Vêtu Christelle, Roche Olivier, Mayeur Hélène, Marsac Cécile, Menasche Maurice, Abitbol Marc
Published 2006-04-01