1. A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. Issue 6 (15th September 2017) Authors: Alharby, E.; Albalawi, A.M.; Nasir, A.; Alhijji, S.A.; Mahmood, A.; Ramzan, K.; Abdusamad, F.; Aljohani, A.; Abdelsalam, O.; Eldardear, A.; Basit, S. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗