1. 22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Issue 4 (22nd March 2017) Authors: Falah, Nadia; Posey, Jennifer E.; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R.; Harel, Tamar Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗