The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

(2014) Melanie G. Pepin et al.   GENETICS IN MEDICINE

Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes

(2014) Sherene Shalhub et al.   JOURNAL OF VASCULAR SURGERY

Vascular Ehlers-Danlos Syndrome Mutations in Type III Collagen Differently Stall the Triple Helical Folding

(2013) Kazunori Mizuno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study

(2012) François Côme Ferré et al.   BMJ Open

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

(2011) Dru F. Leistritz et al.   GENETICS IN MEDICINE

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

(2009) L. Faivre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A