Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

(2012) K. de Leeuw et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

(2012) Marco Castori et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Ehlers-Danlos syndrome, a disorder with many faces

(2012) A De Paepe et al.   CLINICAL GENETICS

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

(2012) Sofie Symoens et al.   HUMAN MUTATION

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

(2011) Sofie Symoens et al.   PLoS One

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation

(2010) Guntram Borck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

(2010) Sofie Symoens et al.   BIOCHEMICAL JOURNAL

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

(2010) Fransiska Malfait et al.   GENETICS IN MEDICINE

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)

(2009) Anna L. Mitchell et al.   HUMAN MUTATION