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Inborn Errors of Development is written by Charles J. Epstein and published by Oxford University Press, USA. It's available with International Standard Book Number or ISBN identification 019514502X (ISBN 10) and 9780195145021 (ISBN 13).
In this book, 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.