1. A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Issue 3 (3rd February 2021) Authors: Mintoff, Dillon; Borg, Isabella; Vornweg, Julia; Mercieca, Liam; Merdzanic, Rijad; Numrich, Johannes; Aquilina, Susan; Pace, Nikolai Paul; Fischer, Judith Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 3(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗