The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.

El Chehadeh-Djebbar, Salima; Faivre, Laurence; Moncla, Anne; Aral, Bernard; Missirian, Chantal; Popovici, Cornel; Rump, Patrick; Van Essen, Anthonie; Frances, Anne-Marie; Gigot, Nadège; Cusin, Veronica; Masurel-Paulet, Alice; Gueneau, Lucie; Payet, Muriel; Ragon, Clémence; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Huet, Frédéric; Balikova, Irina; Teyssier, Jean-Raymond; Mugneret, Francine; Thauvin-Robinet, Christel; Callier, Patrick

El Chehadeh-Djebbar, Salima; Faivre, Laurence; Moncla, Anne; Aral, Bernard; Missirian, Chantal; Popovici, Cornel; Rump, Patrick; Van Essen, Anthonie; Frances, Anne-Marie; Gigot, Nadège; Cusin, Veronica; Masurel-Paulet, Alice; Gueneau, Lucie; Payet, Muriel; Ragon, Clémence; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Huet, Frédéric; Balikova, Irina; Teyssier, Jean-Raymond; Mugneret, Francine; Thauvin-Robinet, Christel; Callier, Patrick.

J Med Genet ; 48(11): e1, 2011 Nov.

Article em En | MEDLINE | ID: mdl-21330571

Assuntos

Fenótipo; Proteínas de Transporte Vesicular/genética; Feminino; Humanos; Masculino

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte Vesicular Limite: Female / Humans / Male Idioma: En Revista: J Med Genet Ano de publicação: 2011 Tipo de documento: Article

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