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 journal › Article › peer-review

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Medicine & Life Sciences