Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual dis...
Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
About this item
Full title
Author / Creator
Harms, Frederike Leonie , Katta Mohan Girisha , Hardigan, Andrew Alexander , Kortum, Fanny , Shukla, Anju , Malik Alawi , Dalal, Ashwin , Brady, Lauren , Tarnopolsky, Mark , Bird, Lynne M , Ceulemans, Sophia , Bebin, Martina , Bowling, Kevin M , Hiatt, Susan M , Lose, Edward J , Primiano, Michelle , Chung, Wendy K , Juusola, Jane , Akdemir, Zeynep C , Bainbridge, Matthew , Wu-Lin, Charng , Drummond-Borg, Margaret , Eldomery, Mohammad K , El-Hattab, Ayman W , Mohammed Am Saleh , Bezieau, Stephane , Cogne, Benjamin , Bertrand Isidor , Kury, Sebastien , Lupski, James R , Myers, Richard M , Cooper, Gregory M and Kutsche, Kerstin
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
Formats
Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Subjects
More information
Scope and Contents
Contents
From a GeneMatcher-enabled international collaboration, we identified ten individuals with intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, encoding a transcription factor required for neuronal differentiation. Structural assessments, transactivation assays, in situ fractionation, RNA-seq and ChIP-seq exp...
Alternative Titles
Full title
Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism
Authors, Artists and Contributors
Author / Creator
Katta Mohan Girisha
Hardigan, Andrew Alexander
Kortum, Fanny
Shukla, Anju
Malik Alawi
Dalal, Ashwin
Brady, Lauren
Tarnopolsky, Mark
Bird, Lynne M
Ceulemans, Sophia
Bebin, Martina
Bowling, Kevin M
Hiatt, Susan M
Lose, Edward J
Primiano, Michelle
Chung, Wendy K
Juusola, Jane
Akdemir, Zeynep C
Bainbridge, Matthew
Wu-Lin, Charng
Drummond-Borg, Margaret
Eldomery, Mohammad K
El-Hattab, Ayman W
Mohammed Am Saleh
Bezieau, Stephane
Cogne, Benjamin
Bertrand Isidor
Kury, Sebastien
Lupski, James R
Myers, Richard M
Cooper, Gregory M
Kutsche, Kerstin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2070551245
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2070551245
Other Identifiers
E-ISSN
2692-8205
DOI
10.1101/067454
How to access this item
https://www.proquest.com/docview/2070551245?pq-origsite=primo&accountid=13902
