Nonsense mutations identified in UBE3B in a patient with Blepharophimosis-Ptosis-Intellectual Disability Syndrome by clinical diagnostic exome sequencing

Date:
Tuesday, Mar 19, 2013 12:00am – 12:00pm
Conference:
ACMG 2013
Authors:
Heather Feenstra, Kelly D. Gonzalez, Kwame Anyane-Yeboa, Sha Tang, Wenqi Zeng