title: Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Pallotta
authors.forename: Tamara
authors.initials: T
authors.lastname: Ehresmann
authors.forename: Paola
authors.initials: P
authors.lastname: Fusilli
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Lieve
authors.initials: L
authors.lastname: Nuytinck
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010641:Phenotype; D011859:Radiography; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging