Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype

Francesca Cortini, Chiara Villa, Barbara Marinelli, Sara Franchetti, Manuela Seia, Angela Cecilia Pesatori, Nicola Montano, Alessandra Bassotti

Research output: Contribution to journalArticlepeer-review

Fingerprint Dive into the research topics of 'Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype'. Together they form a unique fingerprint.

Medicine & Life Sciences