Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and s...
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
About this item
Full title
Author / Creator
Brunetti-Pierri, Nicola , Paciorkowski, Alex R , Ciccone, Roberto , Mina, Erika Della , Bonaglia, Maria Clara , Borgatti, Renato , Schaaf, Christian P , Sutton, V Reid , Xia, Zhilian , Jelluma, Naftha , Ruivenkamp, Claudia , Bertrand, Mary , de Ravel, Thomy J L , Jayakar, Parul , Belli, Serena , Rocchetti, Katia , Pantaleoni, Chiara , D'Arrigo, Stefano , Hughes, Jeff , Cheung, Sau Wai , Zuffardi, Orsetta and Stankiewicz, Pawel
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and congenital anomalies, leading to the identification of several novel microdeletion and microduplication syndromes. We have identified seven individuals with duplication on chromosome 14q11.2q13.1, w...
Alternative Titles
Full title
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
Authors, Artists and Contributors
Author / Creator
Paciorkowski, Alex R
Ciccone, Roberto
Mina, Erika Della
Bonaglia, Maria Clara
Borgatti, Renato
Schaaf, Christian P
Sutton, V Reid
Xia, Zhilian
Jelluma, Naftha
Ruivenkamp, Claudia
Bertrand, Mary
de Ravel, Thomy J L
Jayakar, Parul
Belli, Serena
Rocchetti, Katia
Pantaleoni, Chiara
D'Arrigo, Stefano
Hughes, Jeff
Cheung, Sau Wai
Zuffardi, Orsetta
Stankiewicz, Pawel
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3039509
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3039509
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2010.142
