Inborn Errors of Development

Inborn Errors of Development : The Molecular Basis of Clinical Disorders of Morphogenesis

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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.
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Product details

  • Electronic book text | 1109 pages
  • Oxford, United Kingdom
  • 1423775651
  • 9781423775652

Review quote

"This book is first in making the leap from a classic catalog of malformations, syndromes, sequences, and associations to an organized approach to molecular analysis of patterns of morphogenesis." --American Journal of Human Genetics"This the first comprehensive review of abnormal and normal morphogenesis. ...a must for students of human development, dysmorphology, genomics, and teratology, as well as for physicians who treat patients with birth defects and developmental disabilities. I foresee future editions of this excellent book as the field of molecular genetics further opens..." --The New England Journal of Medicine
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