Article
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Orphanet journal of rare diseases - 12 Apr 2013
Ritelli Marco, Dordoni Chiara, Venturini Marina, Chiarelli Nicola, Quinzani Stefano, Traversa Michele, Zoppi Nicoletta, Vascellaro Annalisa, Wischmeijer Anita, Manfredini Emanuela, Garavelli Livia, Calzavara-Pinton Piergiacomo, Colombi Marina
Abstract excerpt
BACKGROUND: Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these major criteria harbor a type V collagen (COLLV) defect. METHODS: This cohort included 40 patients with...
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