De novo frameshift mutation in ASXL3< /em> in a patient with global developmental delay, microcephaly, and craniofacial anomalies< /strong> < /h2>

Original research article by D.L. Dinwiddie et al. < /em> (2013) . < /p>

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

This case report describes a 6-year-old girl who has a change in ASXL3< /em> identified through whole-exome sequencing. Features believed to be associated with her ASXL3< /em> change were speech delay and developmental delays. < /p>

The researchers propose that changes in the ASXL3< /em> gene are the cause of a newly recognized syndrome characterized by severe global developmental delay, being shorter than average (short stature) , a smaller-than-average head size (microcephaly) , and differences in facial features. < /p>