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...
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: | |
Online Access: | http://link.springer.com/article/10.1186/s13073-017-0452-y |
Similar Items
-
The loss of DLG2 isoform 7/8, but not isoform 2, is critical in advanced staged neuroblastoma
by: Simon Keane, et al.
Published: (2021-03-01) -
Circ-DLG 1 promotes the proliferation of esophageal squamous cell carcinoma
by: Rong J, et al.
Published: (2018-10-01) -
Discs Large Homolog 5 (DLG5) Gene Polymorphism and Crohn’s Disease: A Meta-Analysis of the Published Studies
by: Arezoo Shafieyoun, et al.
Published: (2016-05-01) -
Interference of HTLV-1 Tax Protein with Cell Polarity Regulators: Defining the Subcellular Localization of the Tax-DLG1 Interaction
by: Federico Marziali, et al.
Published: (2017-11-01) -
11q Deletion or ALK Activity Curbs DLG2 Expression to Maintain an Undifferentiated State in Neuroblastoma
by: Joachim Tetteh Siaw, et al.
Published: (2020-09-01)