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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 genetic pathways that govern human development. The authors, Anthony J. Wynshaw-Boris and Robert P. Erickson, curate a collection of expert essays that bridge the gap between developmental biology and clinical genetics. By focusing on syndromes where the causative gene has been identified, the book provides a structured framework for understanding how mutations disrupt normal developmental processes and manifest as clinical pathology.
What You Will Find
Experts and medical professionals regard this monograph as a foundational resource for understanding the molecular basis of congenital disorders. Readers frequently note the high level of technical density, making it a primary reference for geneticists and researchers in the field of morphogenesis.
Page Count:
1552
Publication Date:
2016-07-29
Publisher:
Oxford University Press
ISBN-10:
0199934525
ISBN-13:
9780199934522
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