Book

Epstein's Inborn Errors of Development

Edited by Robert P. Erickson and Anthony J. Wynshaw-Boris

Third edition

Published on behalf of Oxford University Press

Published in print June 2016 | ISBN: 9780199934522
Published online July 2016 | e-ISBN: 9780190213534 | DOI: https://dx.doi.org/10.1093/med/9780199934522.001.0001

Series: Oxford Monographs on Medical Genetics

Epstein's Inborn Errors of Development

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Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Emphasis is placed the developmental roles of genes in the causation of hereditary conditions affecting appearance and function.

Book.  1552 pages.  Illustrated.

Subjects: Clinical Genetics

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Table of Contents

Human Malformations and Their Genetic Basis in Epstein's Inborn Errors of Development

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Principles of Differentiation and Morphogenesis in Epstein's Inborn Errors of Development

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Model Organisms in the Study of Development and Disease in Epstein's Inborn Errors of Development

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Human Genomics and Human Development in Epstein's Inborn Errors of Development

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Development of Left-Right Asymmetry in Epstein's Inborn Errors of Development

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Neural Crest Formation and Craniofacial Development in Epstein's Inborn Errors of Development

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Development of the Nervous System in Epstein's Inborn Errors of Development

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Development of the Eye in Epstein's Inborn Errors of Development

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Development of the Ear in Epstein's Inborn Errors of Development

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Molecular Regulation of Cardiogenesis in Epstein's Inborn Errors of Development

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