Article
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
Human molecular genetics - 1 Oct 2012
Mondal Kajari, Ramachandran Dhanya, Patel Viren C, Hagen Katie R, Bose Promita, Cutler David J, Zwick Michael E
Abstract excerpt
Autism spectrum disorder (ASD) is a heterogeneous disorder with substantial heritability, most of which is unexplained. ASD has a population prevalence of one percent and affects four times as many males as females. Patients with fragile X E (FRAXE) intellectual disability, which is caused by a silencing of the X-linked gene AFF2, display a number of ASD-like phenotypes. Duplications and deletions at the AFF2...
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