Inborn Errors of Development: The Molecular Basis of Clinical Disorders on Morphogenesis - Couverture rigide

Epstein, Charles J.

Couverture rigide

ISBN 10 : 019514502X ISBN 13 : 9780195145021

Editeur : Oxford University Press Inc, 2003

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 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.

Détails de l'édition

• Éditeur: Oxford University Press Inc
• Date d'édition: 2003
• Langue: anglais
• ISBN 10: 019514502X
• ISBN 13: 9780195145021
• Reliure: Relié
• Nombre de pages: 1082
• Coordonnées du fabricant: non disponible
• Personne responsable: Messaggerie Libri ; ufficio.anagrafiche@meli.it; ; Via Verdi, 8; Assago Milano; Italie