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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 ...

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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:
ISSN:
1866-1947
Language:
English
Keywords:
Pubs id:
pubs:162225
UUID:
uuid:63b6731e-ab18-42f0-8a66-c0c19159a6f6
Local pid:
pubs:162225
Source identifiers:
162225
Deposit date:
2012-12-19

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