Inborn Errors Of Development
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Epstein's Inborn Errors of Development
Author: Robert P. Erickson MD
language: en
Publisher: Oxford University Press
Release Date: 2016-06-30
This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.
Inborn Errors of Development
Author: Charles J. Epstein
language: en
Publisher: Oxford University Press, USA
Release Date: 2004
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.
Inborn Errors of Development
Disorders that affect tissue differentiation, organogenesis and morphogenesis constitute a significant proportion of human hereditary diseases. This volume presents in-depth analyses of the human syndromes of abnormal morphogenesis for which the responsible genes have been identified.