Journal article

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

Rebekah Jobling, Rohan D'Souza, Naomi Baker, Irene Lara-Corrales, Roberto Mendoza-Londono, Lucie Dupuis, Ravi Savarirayan, L Ala-Kokko, Peter Kannu

Current Rheumatology Reports | SPRINGER | Published : 2014

DOI: 10.1007/s11926-013-0394-3

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Keywords

Genetic Testing
Achondrogenesis Type-Ii
Mutation
Congenital Muscular-Dystrophy
Imperfecta Type-I
Bethlemmyopathy
Phenotype
Stickler-Syndrome
Autosomal-Dominant
Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Recessive Alport-Syndrome
Severe Osteogenesis Imperfecta
Collagen
Alport Syndrome
Syndrome Hypermobility Type
Life Sciences & Biomedicine
Dystrophic Epidermolysis Bullosa
Extracutaneous Manifestations
Ehlers-Danlos-Syndrome
Collagen Diseases
Ullrich Congenital Muscular Dystrophy
Humans
Collagenopathies
Rheumatology
Stickler Syndrome
Science & Technology
Junctional Epidermolysis Bullosa Non-Herlitz
Porencephaly