Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome.
Pallotta
Rosanna
R
Ehresmann
Tamara
T
Fusilli
Paola
P
De Paepe
Anne
A
Nuytinck
Lieve
L
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