Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
About this item
Full title
Author / Creator
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
Microdeletions encompassing 14q11.2
locus
, involving
SUPT16H
and
CHD8
, were shown to cause developmental delay, intellectual disability, autism spectrum disorders and macrocephaly. Variations leading to
CHD8
haploinsufficiency or loss of function were also shown to lead to a similar phenotype. Recently, a 14q11.2 microdupl...
Alternative Titles
Full title
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2324911454
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2324911454
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-019-00599-w
