/manager/Index ${session.getAttribute("locale")} 5 Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy /manager/Repository/uon:21459 ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes.]]> Sat 24 Mar 2018 08:05:45 AEDT ]]> KRAS mutation testing of metastatic colorectal cancer in Australia: where are we at? /manager/Repository/uon:20630 Sat 24 Mar 2018 07:55:48 AEDT ]]>