Connective Tissue and Its Heritable Disorders Molecular Genetic and Medical Aspects Second Edition by Peter M. Royce, Beat Steinmann – Ebook PDF Instant Download/Delivery: 978-0471251859, 0471251852
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Product details:
ISBN 10: 0471251852
ISBN 13: 978-0471251859
Author: Peter M. Royce, Beat Steinmann
The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Table of contents:
BIOLOGY OF EXTRACELLULAR MATRIX
Chapter 1
Morphology and Chemical Composition of Connective Tissue
Part I
Structure of the Skin and Tendon Karen A. Holbrook and Lynne T. Smith
Part II
Cartilage Nicholas P. Morris, Douglas R. Keene, and William A. Horton
Part III
Bone Robert K. Schenk, Willy Hofstetter, and Rolf Felix
Part IV
The Cardiovascular System Daniela Quaglino and Ivonne Pasquali Ronchetti
Part V
The Eye Richard Mayne
Chapter 2
Collagen
Part I
The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix Cay M. Kielty and Michael E. Grant
Part II
Chapter 3
Gene Structure
Mon-Li Chu and Darwin J. Prockop
Elastin and the Microfibrillar Apparatus Joel Rosenbloom and William R. Abrams
Chapter 4
Glycosylated Matrix Proteins Dick Heinegård, Anders Aspberg, Ahnders Franzén, and Pilar Lorenzo
Chapter 5
Adhesive Glycoproteins Klaus von der Mark and Lydia Sorokin
Chapter 6
Chapter 7
Keratins
E. Birgitte Lane
Extracellular Matrix Degradation Gillian Murphy and John J. Reynolds
HERITABLE DISORDERS OF CONNECTIVE TISSUE
Chapter 8
Osteogenesis Imperfecta Peter H. Byers and William G. Cole
Chapter 9
The Ehlers-Danlos Syndrome
Beat Steinmann, Peter M. Royce, and Andrea Superti-Furga
Chapter 10
Cutis Laxa and Premature Aging Syndromes Jeffrey M. Davidson and MariaGabriella Giro
Chapter 11
Pseudoxanthoma Elasticum
Chapter 12
Kenneth H. Neldner and Berthold Struk
The Marfan Syndrome and Other Microfibrillar Disorders
Reed E. Pyeritz and Harry C. Dietz
Chapter 13
The Homocystinurias Flemming Skovby and Jan P. Kraus
Chapter 14
Menkes Disease and the Occipital Horn Syndrome
Nina Hom and Zeynep Tumer
Chapter 15
Epidermolysis Bullosa Leena Bruckner-Tuderman
Chapter 16
Prolidase Deficiency Peter M. Royce and Beat Steinmann
Chapter 17
-Antitrypsin Deficiency Diane Wilson Cox
Chapter 18
Heritable Forms of Rickets and Osteomalacia Michael P. Whyte
Chapter 19
Osteopetrosis Michael P. Whyte
Chapter 20
Alkaptonuria Bert N. La Du
Chapter 21
Fibrodysplasia Ossificans Progressiva Frederick S. Kaplan, Eileen M. Shore and J. Michael Connor
Chapter 22
Disorders of Lysosomal Enzymes
Part I
General Considerations Ulrich N. Wiesmann
Part II
Clinical Phenotypes Jules G. Leroy
Chapter 23
Skeletal Dysplasias
Part I
Chondrodysplasias: General Concepts and Diagnostic and Management Considerations William A. Horton and Jacqueline T. Hecht
Part II
Chondrodysplasias: Disorders of Cartilage Matrix Proteins William A. Horton and Jacqueline T. Hecht
Part III
Skeletal Dysplasias Related to Defects in Sulfate Metabolism Andrea Superti-Furga
Part IV
Craniosynostosis Syndromes and Skeletal Dys-plasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes Clair A. Francomano and Maximilian Muenke
Part V
Defects in Skeletal Morphogenesis Stefan Mundlos and Bjorn R. Olsen
Chapter 24
Disorders of Keratinization Meral J. Arin, Daniel Hohl, and Dennis R. Roop
Chapter 25
Alport Syndrome Karl Tryggvason and Paula Martin
Chapter 26
Miscellaneous Disorders
Part I
Corneal Dystrophies Due to Mutations in the Kerato-Epithelin Gene (Big-h3) Joel Rosenbloom
Part II
Progressive Pseudorheumatoid Dysplasia a M. Su Wafaa M. Suwairi and Matthew L. Warman
Part III
The Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Wafaa M. Suwairi and Matthew L. Warman
Part IV
Bruck Syndrome Beat Steinmann and Peter M. Royce
Part V
Osteoporosis-Pseudoglioma Syndrome Beat Steinmann and Peter M. Royce
Part VI
Myopathies Due to Defects in Collagen VI Beat Steinmann and Peter M. Royce
Part VII
Knobloch Syndrome Beat Steinmann and Peter M. Royce
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Tags: Peter Royce, Beat Steinmann, Connective Tissue, Heritable Disorders, Genetic and Medical


