A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder

Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

(2019) Delfien Syx et al.   HUMAN MOLECULAR GENETICS

Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

(2019) Salma Adham et al.   CLINICAL GENETICS

COL1 ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

(2019) Silvia Morlino et al.   CLINICAL GENETICS

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

(2018) Patrick R. Blackburn et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

(2017) Sanne D'hondt et al.   GENETICS IN MEDICINE

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation inCOL1A1: Report on a three-generation family without cardiovascular events, and literature review

(2016) Marina Colombi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype

(2015) Rick Gaines et al.   ANNALS OF VASCULAR SURGERY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

(2015) Delfien Syx et al.   HUMAN MUTATION

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

(2013) Fransiska Malfait et al.   Orphanet Journal of Rare Diseases

Structural Insights into Charge Pair Interactions in Triple Helical Collagen-like Proteins

(2011) Jorge A. Fallas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Solution Structure of an ABC Collagen Heterotrimer Reveals a Single-register Helix Stabilized by Electrostatic Interactions

(2009) Jorge A. Fallas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY