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
Further delineation of <i>FKBP14</i>‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature reviewChiara Dordoni, Marina Colombi, Marco Ritelli et al.|American Journal of Medical Genetics Part A|2016Cited by 19
Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing <i>FBN1</i>, and literature reviewChiara Dordoni, Marina Colombi, Graziano Santoro et al.|American Journal of Medical Genetics Part A|2016Cited by 13
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature ReviewClaudia Ciaccio, Marina Colombi, Marco Ritelli et al.|Cytogenetic and Genome Research|2016Cited by 13