Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis - Couverture rigide

Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony

Couverture rigide

ISBN 10 : 0195306910 ISBN 13 : 9780195306910

Editeur : Oxford University Press Inc, 2008

Synopsis

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.

A propos du livre

Présentation de l'éditeur

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.

Revue de presse

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)

Détails de l'édition

• Éditeur: Oxford University Press Inc
• Date d'édition: 2008
• Langue: anglais
• ISBN 10: 0195306910
• ISBN 13: 9780195306910
• Reliure: Relié
• Numéro d'édition: 2
• Nombre de pages: 1664
• Coordonnées du fabricant: non disponible
• Personne responsable: Ufficio Anagrafiche Messaggerie; ufficio.anagrafiche@meli.it; ; Via Verdi, 8; Assago Milano; 20090; Italie