Article
11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.
American journal of medical genetics. Part A - 1 Dec 2015
Maruani Anna, Huguet Guillaume, Beggiato Anita, ElMaleh Monique, Toro Roberto, Leblond Claire S, Mathieu Alexandre, Amsellem Frederique, Lemière Nathalie, Verloes Alain, Leboyer Marion, Gillberg Christopher, Bourgeron Thomas, Delorme Richard
Abstract excerpt
Jacobsen syndrome (JS) is characterized by intellectual disability and higher risk for autism spectrum disorders (ASD). All patients with JS are carriers of contiguous de novo deletions of 11q24.2-25, but the causative genes remain unknown. Within the critical interval, we hypothesized that haploinsufficiency of the neuronal cell adhesion molecule Neurotrimin (NTM) might increase the risk for ASD and could affect...
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