Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Abstract Background Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial...

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Bibliographic Details
Main Authors: Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Genome Medicine
Subjects:
Functional genomics
Promoters
Neurodevelopmental disorders
Intellectual disability
DLG2
Online Access:http://link.springer.com/article/10.1186/s13073-017-0452-y

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http://link.springer.com/article/10.1186/s13073-017-0452-y

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