Title Inborn errors of development : the molecular basis of clinical disorders of morphogenesis / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris

Published Oxford ; New York : Oxford University Press, 2004

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Description 1 online resource (xxiv, 1082 pages) : illustrations (some color) Series Oxford monographs on medical genetics ; no. 49 Oxford monographs on medical genetics ; no. 49. Summary 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 counselling, 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 colour Bibliography Includes bibliographical references and index Notes English Print version record Subject Genetic disorders. Developmental disabilities -- Genetic aspects Genetic disorders in children. Developmental genetics. Abnormalities -- genetics Genetic Diseases, Inborn -- genetics Genetic Diseases, Inborn Human Development HEALTH & FITNESS -- Diseases -- Genetic. MEDICAL -- Genetics. Developmental disabilities -- Genetic aspects Developmental genetics Genetic disorders Genetic disorders in children Teratogenese Morfogenese. Aangeboren afwijkingen. Form Electronic book Author Epstein, Charles J Erickson, Robert P., 1939- Wynshaw-Boris, Anthony Joseph ISBN 1423775651 9781423775652 1280835419 9781280835414 9786610835416 6610835411

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