Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (Oxford Monographs on Medical Genetics)

Epstein M.D., Charles J.; Erickson M.D., Robert P.; Wynshaw-Boris M.D., Anthony

ISBN 10: 019514502X / ISBN 13: 9780195145021

Published by Oxford University Press (edition 1), 2003

About this Item

It's a preowned item in good condition and includes all the pages. It may have some general signs of wear and tear, such as markings, highlighting, slight damage to the cover, minimal wear to the binding, etc., but they will not affect the overall reading experience.

Seller Inventory # 019514502X-11-1

Bibliographic Details

• Title: Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (Oxford Monographs on Medical Genetics)
• Publisher: Oxford University Press (edition 1)
• Publication Date: 2003
• Language: English
• ISBN 10: 019514502X
• ISBN 13: 9780195145021
• Binding: Hardcover
• Edition: 1.
• Condition: Good

About this title

Synopsis

Disorders that affect tissue differentiation, organogenesis, and morphogenesis constitute a significant proportion of human hereditary diseases. Until very recently, however, their genetic causes and pathogenesis have been unknown. Now, with the elucidation of the molecular pathways that govern developmental processes and with advances in gene identification, the genetic bases of an increasing number of human disorders of development are being discovered and the links between genotype and phenotype established. This extraordinary volume is the first to present in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified. Following a series of introductory chapters on the general principles of developmental biology, developmental genetics, and the development of individual tissues or organ systems, more than one hundred clinical genetic disorders are considered. The clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them. It is authoritative, clearly written, consistently organized, and attractively illustrated in color.

About the Author

Charles J. Epstein is at UCSF. Robert P. Erickson is at University of Arizona.