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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Abstract:

Autism is a common neurodevelopmental disorder with a complex mode of inheritance. It is one of the most highly heritable of the complex disorders, although the underlying genetic factors remain largely unknown. Here, we report mutations in the X-chromosome PTCHD1 (patched-related) gene in seven families with autism spectrum disorder (ASD) and in three families with intellectual disability. A 167-kilobase microdeletion spanning exon 1 was found in two brothers, one with ASD and the other with...

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Publication status:
Published

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Journal:
Science translational medicine
Volume:
2
Issue:
49
Pages:
49ra68
Publication date:
2010-09-01
DOI:
EISSN:
1946-6242
ISSN:
1946-6234
Source identifiers:
94599

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