Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
<p>Abstract</p> <p>Background</p> <p>Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling. To d...
Main Authors: | Lacombe Didier, Mom Thierry, Francannet Christine, Duvillard Alain, Thauvin Christel, Dubin Jacques, Bonneau Dominique, Montaut-Verient Bettina, Vigneron Jacqueline, Calais Catherine, David Albert, Eliot Marie-Madeleine, Dollfus Hélène, Vincent Christophe, Delobel Bruno, Weil Dominique, El-Amraoui Aziz, Jonard Laurence, Feldmann Delphine, Zelenika Diana, Délépine Marc, Niasme-Grare Magali, Parodi Marine, Hardelin Jean-Pierre, Levilliers Jacqueline, Marlin Sandrine, Grati M'hamed, Bonnet Crystel, Duriez Françoise, Drouin-Garraud Valérie, Thuillier-Obstoy Marie-Françoise, Sigaudy Sabine, Frances Anne-Marie, Collignon Patrick, Challe Georges, Couderc Rémy, Lathrop Mark, Sahel José-Alain, Weissenbach Jean, Petit Christine, Denoyelle Françoise |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2011-05-01
|
Series: | Orphanet Journal of Rare Diseases |
Online Access: | http://www.ojrd.com/content/6/1/21 |
Similar Items
-
Actualité du recensement des peintures murales en Bourgogne : PACoB
by: Marie-Gabrielle Caffin, et al.
Published: (2013-11-01) -
Current Therapeutic Strategies and Novel Approaches in Osteosarcoma
by: Dominique Heymann, et al.
Published: (2013-05-01) -
<i>C’est que</i> et l’expression de la cause
by: Clara Destais, et al.
Published: (2022-01-01) -
Architectural Competition for EPFL Library (Ecole Polytechnique Fédérale de Lausanne -- Switzerland): <i>Viewpoint of Technical Panel</i>
by: Marie-Françoise Bisbrouck
Published: (2006-06-01) -
An Assessment of New University Library Building in France during the Period 1990-1999
by: Marie-Francoise Bisbrouck
Published: (2002-07-01)