Redefining the MED13L syndrome
Redefining the MED13L syndrome
About this item
Full title
Author / Creator
Adegbola, Abidemi , Musante, Luciana , Callewaert, Bert , Maciel, Patricia , Hu, Hao , Isidor, Bertrand , Picker-Minh, Sylvie , Le Caignec, Cedric , Delle Chiaie, Barbara , Vanakker, Olivier , Menten, Björn , Dheedene, Annelies , Bockaert, Nele , Roelens, Filip , Decaestecker, Karin , Silva, João , Soares, Gabriela , Lopes, Fátima , Najmabadi, Hossein , Kahrizi, Kimia , Cox, Gerald F , Angus, Steven P , Staropoli, John F , Fischer, Ute , Suckow, Vanessa , Bartsch, Oliver , Chess, Andrew , Ropers, Hans-Hilger , Wienker, Thomas F , Hübner, Christoph , Kaindl, Angela M and Kalscheuer, Vera M
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the g...
Alternative Titles
Full title
Redefining the MED13L syndrome
Authors, Artists and Contributors
Author / Creator
Musante, Luciana
Callewaert, Bert
Maciel, Patricia
Hu, Hao
Isidor, Bertrand
Picker-Minh, Sylvie
Le Caignec, Cedric
Delle Chiaie, Barbara
Vanakker, Olivier
Menten, Björn
Dheedene, Annelies
Bockaert, Nele
Roelens, Filip
Decaestecker, Karin
Silva, João
Soares, Gabriela
Lopes, Fátima
Najmabadi, Hossein
Kahrizi, Kimia
Cox, Gerald F
Angus, Steven P
Staropoli, John F
Fischer, Ute
Suckow, Vanessa
Bartsch, Oliver
Chess, Andrew
Ropers, Hans-Hilger
Wienker, Thomas F
Hübner, Christoph
Kaindl, Angela M
Kalscheuer, Vera M
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4592099
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4592099
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.26
