Nonsense mutations identified in UBE3B in a patient with Blepharophimosis-Ptosis-Intellectual Disability Syndrome by clinical diagnostic exome sequencing
Title: Nonsense mutations identified in UBE3B in a patient with Blepharophimosis-Ptosis-Intellectual Disability Syndrome by clinical diagnostic exome sequencing
Authors: Wenqi Zeng; Sha Tang; Kelly D. Gonzalez; Heather Feenstra; Kwame Anyane-Yeboa
Collaborators: Columbia University Irving Medical Center; St. Luke’s Hospital