1. A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. Issue 8 (1st May 2021) Authors: Rogers, Alice P.; Friend, Kathryn; Rawlings, Lesley; Barnett, Christopher P. Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2586 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗