A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation

Por Stanghellini, I., Genovese, E., Palma, S., Falcinelli, C., Presutti, L., Percesepe, A.
Publicado no Acta Otorhinolaryngol Ital (2017)

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

Por Falcinelli, C, Iughetti, L, Percesepe, A, Calabrese, G, Chiarelli, F, Cisternino, M, De Sanctis, L, Pucarelli, I, Radetti, G, Wasniewska, M, Weber, G, Stuppia, L, Bernasconi, S, Forabosco, A
Publicado em 2002