Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

by Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra
Published in J Med Case Rep (2016)

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

by Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
Published in Front Genet (2021)

SUN-362 Bone Involvement in Adult Patients Affected with Ehlers-Danlos Syndromes

by Eller-Vainicher, Cristina, Grassi, Giorgia, Chiodini, Iacopo, Cairoli, Elisa, Palmieri, Serena, Franchetti, Sara, Marinelli, Barbara, Castronovo, Paola, Arosio, Maura, Bassotti, Alessandra
Published in J Endocr Soc (2020)