Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndromeMarco Ritelli, Marina Colombi, Marina Venturini et al.|Orphanet Journal of Rare Diseases|2017Cited by 34
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorderSilvia Morlino, Marco Ritelli, Marco Castori et al.|European Journal of Human Genetics|2018Cited by 23
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testingMarina Colombi, Marco Ritelli, Valeria Cinquina et al.|European Journal of Medical Genetics|2017Cited by 16