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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


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
Aangeboren afwijkingen.
Form Electronic book
Author Epstein, Charles J
Erickson, Robert P., 1939-
Wynshaw-Boris, Anthony Joseph
ISBN 1423775651