The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
About this item
Full title
Author / Creator
van Bon, Bregje WM , Koolen, David A , Brueton, Louise , McMullan, Dominic , Lichtenbelt, Klaske D , Adès, Lesley C , Peters, Gregory , Gibson, Kate , Novara, Francesca , Pramparo, Tiziano , Bernardina, Bernardo Dalla , Zoccante, Leonardo , Balottin, Umberto , Piazza, Fausta , Pecile, Vanna , Gasparini, Paolo , Guerci, Veronica , Kets, Marleen , Pfundt, Rolph , de Brouwer, Arjan P , Veltman, Joris A , de Leeuw, Nicole , Wilson, Meredith , Antony, Jayne , Reitano, Santina , Luciano, Daniela , Fichera, Marco , Romano, Corrado , Brunner, Han G , Zuffardi, Orsetta and de Vries, Bert BA
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report...
Alternative Titles
Full title
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Authors, Artists and Contributors
Author / Creator
Koolen, David A
Brueton, Louise
McMullan, Dominic
Lichtenbelt, Klaske D
Adès, Lesley C
Peters, Gregory
Gibson, Kate
Novara, Francesca
Pramparo, Tiziano
Bernardina, Bernardo Dalla
Zoccante, Leonardo
Balottin, Umberto
Piazza, Fausta
Pecile, Vanna
Gasparini, Paolo
Guerci, Veronica
Kets, Marleen
Pfundt, Rolph
de Brouwer, Arjan P
Veltman, Joris A
de Leeuw, Nicole
Wilson, Meredith
Antony, Jayne
Reitano, Santina
Luciano, Daniela
Fichera, Marco
Romano, Corrado
Brunner, Han G
Zuffardi, Orsetta
de Vries, Bert BA
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987180
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987180
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2009.152
