Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations...
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
About this item
Full title
Author / Creator
Bronicki, Lucas M , Redin, Claire , Drunat, Severine , Piton, Amélie , Lyons, Michael , Passemard, Sandrine , Baumann, Clarisse , Faivre, Laurence , Thevenon, Julien , Rivière, Jean-Baptiste , Isidor, Bertrand , Gan, Grace , Francannet, Christine , Willems, Marjolaine , Gunel, Murat , Jones, Julie R , Gleeson, Joseph G , Mandel, Jean-Louis , Stevenson, Roger E , Friez, Michael J and Aylsworth, Arthur S
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell prolifera...
Alternative Titles
Full title
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Authors, Artists and Contributors
Author / Creator
Redin, Claire
Drunat, Severine
Piton, Amélie
Lyons, Michael
Passemard, Sandrine
Baumann, Clarisse
Faivre, Laurence
Thevenon, Julien
Rivière, Jean-Baptiste
Isidor, Bertrand
Gan, Grace
Francannet, Christine
Willems, Marjolaine
Gunel, Murat
Jones, Julie R
Gleeson, Joseph G
Mandel, Jean-Louis
Stevenson, Roger E
Friez, Michael J
Aylsworth, Arthur S
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4613470
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4613470
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.29
