A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Prasad, Megana K, Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Séréna, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Beal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, El Alloussi, Mustapha, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, de la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
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Methods
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4752661/
https://ncbi.nlm.nih.gov/pubmed/26502894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103302
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