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
Authors: Sha Tang; Lea Tuzovic; Layla Shahmirzadi; Kelly Gonzalez; Xiang Li; Miller Russell; Jennifer J. Wei; Kwame Anyane-Yeboa; Wenqi Zeng
Collaborators: Columbia University Irving Medical Center