Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
About this item
Full title
Author / Creator
Walz, Katherina , Cohen, Devon , Neilsen, Paul M. , Foster, Joseph , Brancati, Francesco , Demir, Korcan , Fisher, Richard , Moffat, Michelle , Verbeek, Nienke E. , Bjørgo, Kathrine , Lo Castro, Adriana , Curatolo, Paolo , Novelli, Giuseppe , Abad, Clemer , Lei, Cao , Zhang, Lily , Diaz-Horta, Oscar , Young, Juan I. , Callen, David F. and Tekin, Mustafa
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Mutations in
ANKRD11
have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates
ANKRD11
mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of...
Alternative Titles
Full title
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
Authors, Artists and Contributors
Author / Creator
Cohen, Devon
Neilsen, Paul M.
Foster, Joseph
Brancati, Francesco
Demir, Korcan
Fisher, Richard
Moffat, Michelle
Verbeek, Nienke E.
Bjørgo, Kathrine
Lo Castro, Adriana
Curatolo, Paolo
Novelli, Giuseppe
Abad, Clemer
Lei, Cao
Zhang, Lily
Diaz-Horta, Oscar
Young, Juan I.
Callen, David F.
Tekin, Mustafa
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1654679061
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1654679061
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-014-1509-2
