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Epstein’s Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis, 3ed
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.
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.
This is a masterpiece. Exceptional. Doody’s Amazingly comprehensive. This book is an extraordinary accomplishment; no clinical geneticist can function without it. American Journal of Medical Genetics The editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership who may now marvel and consider how lucky we are to be studying, researching, or otherwise employed at such a moment in time. Human Genetics
About the Author
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.
I. GENERAL CONCEPTS
II. Patterns of Development
III. Defined Core Developmental Pathways Linked to Cilia
IV. Other Defined Core Developmental Path’ways
V. Transcription Factors and Chromatin Regulators
VI. Cellular Processes and Dynamics
VII. Dysmorphic Disease Genes of Unknow Function or Unclassified
لینک کوتاه : https://bookbaz.ir/?p=58289
نویسنده : Robert P. Erickson , Anthony J. Wynshaw-Boris
ناشر : Oxford University Press; 3 edition
سال انتشار : 2016
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 1553
(ISBN) شابک : 0199934525
قیمت کتاب درآمازون : $232.07
حجم فایل : 65 MB