Connective Tissue and Its Heritable Disorders (PDF)

Preface (Peter M. Royce and Beat Steinmann). Acknowledgments. Preface to the First Edition (Peter M. Roye and Beat Steinmann). Contributors. Introduction: Research on Collagen in the Author's Labortory, 1952-1982 (Karl A. Piez). Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept (Victor A. McKusick). BIOLOGY OF EXTRACELLULAR MATRIX. Morphology and Chemical Composition of Connective Tissue. Collagen. Elastin and the Microfibrillar Apparatus (Joel Rosenbloom and William R. Abrams). Glycoslated Matrix Proteins (Dick Heineg et al.). Adhesive Glycoproteins (Klaus von der Mark and Lydia Sorokin). Keratins (E. Birgitte Lane). Extracellular Matrix Degradation (Gillian Murphy and John J. Reynolds). HERITABLE DISORDERS OF CONNECTIVE TISSUE. Osteogenesis Imperfecta (Peter H. Byers and William G. Cole). The Ehlers-Danlos Syndrome (Beat Steinmann, et al.). Cutis Laxa and Premature Aging Syndromes (Jeffrey M. Davidson and MariaGabriella Giro) . Pseudoxanthoma Elasticum (Kenneth H. Neldner and Berthold Struk). The Marfan Syndrome and Other Microfibrillar Disorders (Reed E. Pyeritz and Harry C. Dietz). The Homocystinurias (Flemming Skovby and Jan P. Kraus). Menkes Disease and the Occipital Horn Syndrome (Nina Horn and Zeynep Tumer). Epidermolysis Bullosa (Leena Bruckner-Tuderman). Prolidase Deficiency (Peter M. Royce and Beat Steinmann). 1-Antitrypsin Deficiency (Diane Wilson Cox). Heritable Forms of Rickets and Osteomalacia (Michael P. Whyte). Osteopetrosis (Michael P. Whyte). Alkaptonuria (Bert N. La Du). Fibrodysplasia Ossificans Progressiva (Frederick S. Kaplan, et al.). Disorders of Lysosomal Enzymes. Skeletal Dysplasias. Disorders of Keratinization (Meral J. Arin, et al.). Alport Syndrome (Karl Tryggvason and Paula Martin). Miscellaneous Disorders. Appendix I: International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias. Appendix II: Extracellular Matrix Metabolites in Body

Peter M Royce received his Ph.D. at Cambridge University in the 1970s, and has held research and teaching positions in academic and industrial research institutes in England, Australia, Switzerland, and Japan. He currently works in Cambridge as a writer and consultant.

Beat Steinmann trained as a pediatrician at the University of Zurich, specializing in inborn errors of metabolism. He was the first to describe mutations in collagen I in patients with Ehlers-Danlos syndrome and lethal osteogenesis imperfecta. He is currently a Full Professor and Head of the Division of Metabolism and Molecular Pediatrics, Department of Pediatrics, in the University of Zurich. He is also editor of the European Journal of Pediatrics, and editor for the section Heritable Disorders of Connective Tissues in Online Mendelian Inheritance in Man (OMIM).

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