Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP...
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
About this item
Full title
Author / Creator
Rusconi, Daniela , Negri, Gloria , Colapietro, Patrizia , Picinelli, Chiara , Milani, Donatella , Spena, Silvia , Magnani, Cinzia , Silengo, Margherita Cirillo , Sorasio, Lorena , Curtisova, Vaclava , Cavaliere, Maria Luigia , Prontera, Paolo , Stangoni, Gabriela , Ferrero, Giovanni Battista , Biamino, Elisa , Fischetto, Rita , Piccione, Maria , Gasparini, Paolo , Salviati, Leonardo , Selicorni, Angelo , Finelli, Palma , Larizza, Lidia and Gervasini, Cristina
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
Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. The syndrome is caused by almost private point mutations in the
CREBBP
(~55 % of cases) and
EP300
(~8 %) genes. The
CREBBP
mutational spectrum is variegated and characterize...
Alternative Titles
Full title
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Authors, Artists and Contributors
Author / Creator
Negri, Gloria
Colapietro, Patrizia
Picinelli, Chiara
Milani, Donatella
Spena, Silvia
Magnani, Cinzia
Silengo, Margherita Cirillo
Sorasio, Lorena
Curtisova, Vaclava
Cavaliere, Maria Luigia
Prontera, Paolo
Stangoni, Gabriela
Ferrero, Giovanni Battista
Biamino, Elisa
Fischetto, Rita
Piccione, Maria
Gasparini, Paolo
Salviati, Leonardo
Selicorni, Angelo
Finelli, Palma
Larizza, Lidia
Gervasini, Cristina
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_1679367220
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1679367220
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-015-1542-9
