The clinical significance of small copy number variants in neurodevelopmental disorders
Original research article by R. Asadollahi et al. (2014) .
Read the abstract here.
In this study, 714 people with autism or developmental delay were tested using chromosomal microarray techonology. This type of testing can identify deletions or duplications of genetic material in one or more genes. One child was identified to have a change in the MED13L gene. The child’s features are described in the 2013 Asadollahi article summary below.