1. A novel INDEL mutation in the EDA gene resulting in a distinct X‐ linked hypohidrotic ectodermal dysplasia phenotype in an Italian family. (30th September 2014) Authors: Callea, M.; Nieminen, P.; Willoughby, C.E.; Clarich, G.; Yavuz, I.; Vinciguerra, A.; Di Stazio, M.; Giglio, S.; Sani, I.; Maglione, M.; Pensiero, S.; Tadini, G.; Bellacchio, E. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 30:Number 2(2016:Feb.) Page Start: 341 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. (18th March 2014) Authors: Callea, M.; Willoughby, C.E.; Nieminen, P.; Di Stazio, M.; Bellacchio, E.; Giglio, S.; Sani, I.; Vinciguerra, A.; Maglione, M.; Tadini, G.; Clarich, G. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 29:Number 5(2015:May) Page Start: 1032 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X‐linked ectodermal dysplasia. (30th May 2014) Authors: Guazzarotti, L.; Tadini, G.; Mancini, G.E.; Giglio, S.; Willoughby, C.E.; Callea, M.; Sani, I.; Nannini, P.; Mameli, C.; Tenconi, A.A.; Mauri, S.; Bottero, A.; Caimi, A.; Morelli, M.; Zuccotti, G.V. Journal: Clinical genetics Issue: Volume 87:Number 4(2015:Apr.) Page Start: 338 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗