Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis by Anthony Wynshaw-Boris, Charles J. Epstein (Editor), Robert P. Erickson (Editor)

From the Publisher

Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.

Doody Review Services

Reviewer:Luis F Escobar, MD, MS(St. Vincent Hospital and Health Care Center)
Description:The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression. It is a complete and current account of how gene behavior influences causation of human malformations as well as normal development.
Purpose:The purpose of the second edition has changed from the first edition. It is clear that an understanding of the molecular mechanisms that govern developmental processes allows the classification of disorders by developmental signal transduction pathways and not by the classical body-organ systems approach. This unique book describes how signal transduction pathways affect morphogenesis and, therefore, in the abnormal stage, may induce malformations and malformation syndromes.
Audience:With their first edition, the editors targeted a wide-ranging audience, including physicians, dentists, genetics counselors, and other health professionals as well as basic scientists and students of human development. It is clear that the degree of sophistication of the information in the second edition requires readers to have a basic background in human genetics. This is a unique resource for dysmorphologists, clinical geneticists, genetic counselors, basic scientists, and medical genetics residents looking to understand the gene-based mechanisms of dysmorphogenesis. The editors, recognized members of the medical genetics community, have put together an incredible team of authors with a high degree of expertise in their field.
Features:Thisis a masterpiece. The book moves from basic concepts of human malformations and their genetic basis and gently introduces the field of patterns of development. Then the book moves to defined signaling pathways in categories such as the sonic hedgehog signaling pathway, the transforming growth factor pathways, and the fibroblast growth factor signaling pathway. Each entry provides a wonderful introduction to the subject followed by the description of the particular mechanism. The editors have designed each chapter to provide a substantial amount of clinical information that makes the link between molecular mechanisms and clinical disorders very easy to understand. Clinicians as well as basic scientists should be able to follow the book easily. In an attempt to keep this publication as a single volume, the editors have made supplementary references, tables, and figures available through the Oxford University Press website. This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers.
Assessment:There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional and I look forward to future editions.

Product Details

• ISBN: 0195306910
  
• ISBN-13: 9780195306910
• Format: Hardcover, 1617pp
• Publisher: Oxford University Press, USA
• Pub. Date: April 2008
• Edition Number: 2
• Sales Rank: 468,586
• Series: Oxford Monographs on Medical Genetics Ser.

• Table of Contents

Table of Contents