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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.
This text investigates the molecular mechanisms underlying clinical disorders of morphogenesis and the specific developmental pathways disrupted by genetic mutations. The authors, Anthony J. Wynshaw-Boris and Robert P. Erickson, curate contributions from leading experts to bridge the gap between basic developmental biology and clinical dysmorphology. By focusing on identified causative genes, the work provides a framework for understanding how molecular errors manifest as complex physical developmental pathologies.
What You Will Find
Scope Limits
Experts recognize this monograph as a specialized reference for medical geneticists and researchers focusing on developmental biology. Readers frequently note the high level of technical density, making it a resource primarily intended for professionals and advanced students in the field.
Page Count:
1552
Publication Date:
2016-01-01
Publisher:
Oxford University Press
ISBN-10:
0190275421
ISBN-13:
9780190275426
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