Inborn Errors of Development (Oxford Monographs on Medical Genetics)

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9780195306910: Inborn Errors of Development (Oxford Monographs on Medical Genetics)
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Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.

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About the Author:

Charles Epstein is a Professor of Pediatrics at the University of California in San Francisco. Robert Erickson is a Professor of Human Genetics at the University of Arizona. Anthony Wynshaw-Boris is an Associate Professor of Pediatrics at the University of California in San Diego.

Review:

"The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression...This is a masterpiece...This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers. There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional."-- Doody's
"The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression...This is a masterpiece...This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers. There is no publication comparable to this wonderful and well edited and written book. The quality is 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


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