Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in <i>COL1A1</i>: Report on a three‐generation family without cardiovascular events, and literature reviewMarina Colombi, Marco Ritelli, Arianna Zanca et al.|American Journal of Medical Genetics Part A|2016Cited by 39
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility typeMarco Castori, Marina Colombi, Isabella Sperduti et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2015Cited by 37
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patientsMarina Colombi, Marco Ritelli, Arianna Zanca et al.|Clinical Genetics|2017Cited by 33