A case of Huntington disease‐like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era

por Ruscitti, Federica, Origone, Paola, Rosti, Giulia, Trevisan, Lucia, Marchese, Roberta, Brugnolo, Andrea, Massa, Federico, Castellini, Paola, Mandich, Paola
Publicado 2022

A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

por Ruscitti, Federica, Trevisan, Lucia, Rosti, Giulia, Gotta, Fabio, Cianflone, Annalia, Geroldi, Alessandro, Origone, Paola, Pichiecchio, Anna, Viglio, Simona, Iascone, Maria, Mandich, Paola
Publicado 2021