title: Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.
authors.affiliation: University Children's Hospital, Zurich, Switzerland. cecilia.giunta@kispi.uzh.ch
authors.forename: Cecilia
authors.initials: C
authors.lastname: Giunta
authors.forename: Céline
authors.initials: C
authors.lastname: Bürer-Chambaz
authors.forename: Beat
authors.initials: B
authors.lastname: Steinmann