Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
About this item
Full title
Author / Creator
Gregor, Anne , Albrecht, Beate , Bader, Ingrid , Bijlsma, Emilia K , Ekici, Arif B , Engels, Hartmut , Hackmann, Karl , Horn, Denise , Hoyer, Juliane , Klapecki, Jakub , Kohlhase, Jürgen , Maystadt, Isabelle , Nagl, Sandra , Prott, Eva , Tinschert, Sigrid , Ullmann, Reinhard , Wohlleber, Eva , Woods, Geoffrey , Reis, André , Rauch, Anita and Zweier, Christiane
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia. Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe in...
Alternative Titles
Full title
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Authors, Artists and Contributors
Author / Creator
Albrecht, Beate
Bader, Ingrid
Bijlsma, Emilia K
Ekici, Arif B
Engels, Hartmut
Hackmann, Karl
Horn, Denise
Hoyer, Juliane
Klapecki, Jakub
Kohlhase, Jürgen
Maystadt, Isabelle
Nagl, Sandra
Prott, Eva
Tinschert, Sigrid
Ullmann, Reinhard
Wohlleber, Eva
Woods, Geoffrey
Reis, André
Rauch, Anita
Zweier, Christiane
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e80b3fa99fa04807993bdc10c3943cf3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e80b3fa99fa04807993bdc10c3943cf3
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/1471-2350-12-106
