The 2017 international classification of the Ehlers–Danlos syndromesFransiska Malfait, Brad T. Tinkle, Hanadi Kazkaz et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2017Cited by 1.9k
Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Marina Colombi, Piergiacomo Calzavara‐Pinton et al.|Orphanet Journal of Rare Diseases|2013Cited by 126
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disordersMarina Colombi, Marco Ritelli, Nicola Chiarelli et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2015Cited by 126
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromesDaniele Cazzato, Giuseppe Lauria, Chiara Dordoni et al.|Neurology|2016Cited by 122
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patientsMarco Castori, Marina Colombi, Silvia Morlino et al.|American Journal of Medical Genetics Part A|2012Cited by 104