Article
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
Autism research : official journal of the International Society for Autism Research - 1 Apr 2014
Ceroni Fabiola, Sagar Angela, Simpson Nuala H, Gawthrope Alex J T, Newbury Dianne F, Pinto Dalila, Francis Sunday M, Tessman Dorothy C, Cook Edwin H, Monaco Anthony P, Maestrini Elena, Pagnamenta Alistair T, Jacob Suma
Abstract excerpt
CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired communication and social behavior, based on animal studies. Recent human studies have shown administration of oxytocin...
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