Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual di...
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
About this item
Full title
Author / Creator
Reggiani, Claudio , Coppens, Sandra , Sekhara, Tayeb , Dimov, Ivan , Pichon, Bruno , Lufin, Nicolas , Addor, Marie-Claude , Belligni, Elga Fabia , Digilio, Maria Cristina , Faletra, Flavio , Ferrero, Giovanni Battista , Gerard, Marion , Isidor, Bertrand , Joss, Shelagh , Niel-Bütschi, Florence , Perrone, Maria Dolores , Petit, Florence , Renieri, Alessandra , Romana, Serge , Topa, Alexandra , Vermeesch, Joris Robert , Lenaerts, Tom , Casimir, Georges , Abramowicz, Marc , Bontempi, Gianluca , Vilain, Catheline , Deconinck, Nicolas and Smits, Guillaume
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.
Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics dataset...
Alternative Titles
Full title
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
Authors, Artists and Contributors
Author / Creator
Coppens, Sandra
Sekhara, Tayeb
Dimov, Ivan
Pichon, Bruno
Lufin, Nicolas
Addor, Marie-Claude
Belligni, Elga Fabia
Digilio, Maria Cristina
Faletra, Flavio
Ferrero, Giovanni Battista
Gerard, Marion
Isidor, Bertrand
Joss, Shelagh
Niel-Bütschi, Florence
Perrone, Maria Dolores
Petit, Florence
Renieri, Alessandra
Romana, Serge
Topa, Alexandra
Vermeesch, Joris Robert
Lenaerts, Tom
Casimir, Georges
Abramowicz, Marc
Bontempi, Gianluca
Vilain, Catheline
Deconinck, Nicolas
Smits, Guillaume
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1e373d346a364c37be5ee81901ae9524
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1e373d346a364c37be5ee81901ae9524
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-017-0452-y
