Clinical whole-exome sequencing in child neurology practice< /strong> < /h2>

Original research article by S. Srivastava et al. < /em> (2014) . < /p>

Read the abstract here< /a> . < /p>

This study tested 78 people with developmental delay, intellectual disability, cerebral palsy, or autism using whole-exome sequencing. One child, who has some degree of intellectual disability, was found to have an ASXL3< /em> change and was diagnosed with Bainbridge-Ropers syndrome. No developmental regression was observed. < /p>