Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis

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Robert P. Erickson, Anthony Joseph Wynshaw-Boris
Oxford University Press, 2016 - Medical - 1497 pages
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.
 

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Contents

II Patterns of Development
47
III Defined Core Developmental Pathways Linked to Cilia
219
IV Other Defined Core Developmental Pathways
371
V Transcription Factors and Chromatin Regulators
657
VI Cellular Processes and Dynamics
1035
VII Dysmorphic Disease Genes of Unknow Function or Unclassified
1395
Index
1457
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About the author (2016)


Robert P. Erickson, MD, is the Holsclaw Family Professor Emeritus of Human Genetics and Inherited Disease in the Department of Pediatrics at the University of Arizona.

Anthony J. Wynshaw-Boris, MD, PhD, is Chair of the Department of Genetics and Genome Sciences at Case Western Reserve University.

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