De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including au...
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth
About this item
Full title
Author / Creator
An, Yu , Zhang, Linna , Liu, Wenwen , Jiang, Yunyun , Chen, Xue , Lan, Xiaoping , Li, Gan , Hang, Qiang , Wang, Jian , Gusella, James F. , Du, Yasong and Shen, Yiping
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
CHD8,
which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutations have been reported in subjects with variable phenotypes, but little is known concerning genotype–phenotype correlations. We have identified four novel de novo mutations in Chinese subjects: two...
Alternative Titles
Full title
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2345506571
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2345506571
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-020-02115-9
