Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagno...
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
About this item
Full title
Author / Creator
Bramswig, Nuria C. , Lüdecke, Hermann-Josef , Alanay, Yasemin , Albrecht, Beate , Barthelmie, Alexander , Boduroglu, Koray , Braunholz, Diana , Caliebe, Almuth , Chrzanowska, Krystyna H. , Czeschik, Johanna Christina , Endele, Sabine , Graf, Elisabeth , Guillén-Navarro, Encarna , Kiper, Pelin Özlem Simsek , López-González, Vanesa , Parenti, Ilaria , Pozojevic, Jelena , Utine, Gulen Eda , Wieland, Thomas , Kaiser, Frank J. , Wollnik, Bernd , Strom, Tim M. and Wieczorek, Dagmar
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
Coffin–Siris syndrome (CSS) and Nicolaides–Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. However, there are a number of...
Alternative Titles
Full title
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
Authors, Artists and Contributors
Author / Creator
Lüdecke, Hermann-Josef
Alanay, Yasemin
Albrecht, Beate
Barthelmie, Alexander
Boduroglu, Koray
Braunholz, Diana
Caliebe, Almuth
Chrzanowska, Krystyna H.
Czeschik, Johanna Christina
Endele, Sabine
Graf, Elisabeth
Guillén-Navarro, Encarna
Kiper, Pelin Özlem Simsek
López-González, Vanesa
Parenti, Ilaria
Pozojevic, Jelena
Utine, Gulen Eda
Wieland, Thomas
Kaiser, Frank J.
Wollnik, Bernd
Strom, Tim M.
Wieczorek, Dagmar
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1680188666
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1680188666
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-015-1535-8
