The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.
Giunta
Cecilia
C
Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland. cecilia.giunta@kispi.uzh.ch <cecilia.giunta@kispi.uzh.ch>
Chambaz
Céline
C
Pedemonte
Marina
M
Scapolan
Sara
S
Steinmann
Beat
B
D001706:Biopsy; D002478:Cells, Cultured; D003094:Collagen / Q000737:chemistry / Q000648:ultrastructure*; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D046529:Microscopy, Electron, Transmission; D012720:Severity of Illness Index; D012867:Skin / Q000166:cytology*
D003094:Collagen