1. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. Issue 1 (7th November 2016) Authors: Badalato, Lauren; Farhan, Sali M. K.; Dilliott, Allison A.; Bulman, Dennis E.; Hegele, Robert A.; Goobie, Sharan L. Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗