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Connective Tissue and Its Heritable Disorders Molecular, Genetic, and Medical Aspects

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ISBN-10: 0471588199

ISBN-13: 9780471588191

Edition: 1992

Authors: Peter M. Royce, Beat Steinmann

List price: $510.00
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Book details

List price: $510.00
Copyright year: 1992
Publisher: John Wiley & Sons, Incorporated
Publication date: 11/25/1992
Binding: Hardcover
Pages: 724
Size: 9.25" wide x 11.75" long x 1.75" tall
Weight: 4.334
Language: English

Preface to the First Edition
Research on Collagen in the Author's Laboratory, 1952-1982
Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept
Biology of Extracellular Matrix
Morphology and Chemical Composition of Connective Tissue
Structure of the Skin and Tendon
The Cardiovascular System
The Eye
The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix
Gene Structure
Elastin and the Microfibrillar Apparatus
Glycosylated Matrix Proteins
Adhesive Glycoproteins
Extracellular Matrix Degradation
Heritable Disorders of Connective Tissue
Osteogenesis Imperfecta
The Ehlers-Danlos Syndrome
Cutis Laxa and Premature Aging Syndromes
Pseudoxanthoma Elasticum
The Marfan Syndrome and Other Microfibrillar Disorders
The Homocystinurias
Menkes Disease and the Occipital Horn Syndrome
Epidermolysis Bullosa
Prolidase Deficiency
[alpha subscript 1]-Antitrypsin Deficiency
Heritable Forms of Rickets and Osteomalacia
Fibrodysplasia Ossificans Progressiva
Disorders of Lysosomal Enzymes
General Considerations
Clinical Phenotypes
Skeletal Dysplasias
Chondrodysplasias: General Concepts and Diagnostic and Management Considerations
Chondrodysplasias: Disorders of Cartilage Matrix Proteins
Skeletal Dysplasias Related to Defects in Sulfate Metabolism
Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes
Defects in Skeletal Morphogenesis
Disorders of Keratinization
Alport Syndrome
Miscellaneous Disorders
Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene ([beta]ig-h3)
Progressive Pseudorheumatoid Dysplasia
The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Bruck Syndrome
Osteoporosis-Pseudoglioma Syndrome
Myopathies Due to Defects in Collagen VI
Knobloch Syndrome
International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias
Extracellular Collagen Metabolites in Body Fluids