1. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Issue 6 (24th October 2017) Authors: Paganini, I.; Sestini, R.; Capone, G.L.; Putignano, A.L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗