Journal article icon

Journal article

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.

Abstract:

Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, play a significant role in the genetic aetiology of this condition. In this study, we describe the phenotypic and genomic characterisation of a multiplex autism family from the AGP study that was found to harbour ...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1007/s11689-011-9076-5

Authors


Journal:
Journal of neurodevelopmental disorders More from this journal
Volume:
3
Issue:
2
Pages:
124-131
Publication date:
2011-06-01
DOI:
EISSN:
1866-1955
ISSN:
1866-1947
Language:
English
Keywords:
Pubs id:
pubs:177291
UUID:
uuid:d2c0cc88-a3b5-453b-aa11-54e52b7b9140
Local pid:
pubs:177291
Source identifiers:
177291
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP