Clinical diagnostic exome sequencing identified a novel mutation in ACTG2, possibly due to germline mosaicism, in two affected children with megacystis and echogenic bowel in a Chinese family

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm
Conference:
ACMG 2013
Authors:
Jennifer J. Wei, Kelly Gonzalez, Kwame Anyane-Yeboa, Layla Shahmirzadi, Lea Tuzovic, Miller Russell, Sha Tang, Wenqi Zeng, Xiang Li