1. Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. Issue 5 (29th April 2016) Authors: Grandone, A.; Torella, A.; Santoro, C.; Giugliano, T.; del Vecchio Blanco, F.; Mutarelli, M.; Cirillo, M.; Cirillo, G.; Piluso, G.; Capristo, C.; Festa, A.; Marzuillo, P.; Miraglia del Giudice, E.; Perrone, L.; Nigro, V. Journal: Clinical genetics Issue: Volume 90:Issue 5(2016) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype. Issue 1 (15th September 2017) Authors: Santoro, C.; Giugliano, T.; Melone, M.A.B.; Cirillo, M.; Schettino, C.; Bernardo, P.; Cirillo, G.; Perrotta, S.; Piluso, G. Journal: Clinical genetics Issue: Volume 93:Issue 1(2018) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗