Overview

Inborn Errors of Development 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 this book 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 counselling and prognosis, and any known treatments are discussed.

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9780195306910

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This text has achieved 'classic' status... the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership Human Genetics 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. Luis F Escobar, MD, Doody's Notes

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. Luis F Escobar, MD, Doody's Notes

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