Article
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Orphanet journal of rare diseases - 11 May 2011
Bonnet Crystel, Grati M'hamed, Marlin Sandrine, Levilliers Jacqueline, Hardelin Jean-Pierre, Parodi Marine, Niasme-Grare Magali, Zelenika Diana, Délépine Marc, Feldmann Delphine, Jonard Laurence, El-Amraoui Aziz, Weil Dominique, Delobel Bruno, Vincent Christophe, Dollfus Hélène, Eliot Marie-Madeleine, David Albert, Calais Catherine, Vigneron Jacqueline, Montaut-Verient Bettina, Bonneau Dominique, Dubin Jacques, Thauvin Christel, Duvillard Alain, Francannet Christine, Mom Thierry, Lacombe Didier, 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
Abstract excerpt
BACKGROUND: 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 date, nine causative genes have been identified for the three clinical subtypes (USH1, USH2 and USH3). Current diagnostic strategies make use of a genotyping microarray...
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