1. Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome. Issue 6 (5th February 2018) Authors: Shen, W.; Young, B.A.; Bosworth, M.; Wright, K.E.; Lamb, A.N.; Ji, Y. Journal: Clinical genetics Issue: Volume 93:Issue 6(2018) Page Start: 1248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗