1. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. Issue 4 (22nd March 2017) Authors: Sharkia, Rajech; Shalev, Stavit A.; Zalan, Abdelnaser; Marom‐David, Milit; Watemberg, Nathan; Urquhart, Jill E.; Daly, Sarah B.; Bhaskar, Sanjeev S.; Williams, Simon G.; Newman, William G.; Spiegel, Ronen; Azem, Abdussalam; Elpeleg, Orly; Mahajnah, Muhammad Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1051 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗