Inborn Errors of Development

Inborn Errors of Development : The Molecular Basis of Clinical Disorders of Morphogenesis

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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.show more

Product details

  • Hardback | 1664 pages
  • 223.52 x 281.94 x 68.58mm | 4,241.07g
  • Oxford University Press Inc
  • New York, United States
  • English
  • Revised
  • 2nd Revised edition
  • 514 colour illustrations and 250 black and white illustrations
  • 0195306910
  • 9780195306910
  • 2,004,456

Review quote

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 Notesshow more

Table of contents

I GENERAL CONCEPTS ; II PATTERNS OF DEVELOPMENT ; III DEFINED PATHWAYS ; Part A. The Sonic Hedgehog Signaling Pathway ; Part B. The Wnt (Wingless-type) Signaling Pathway ; Part C. The Transforming Growth Factor-ss (TGF-ss) Signaling Pathway ; Part D. The Tumor Necrosis Factor Signaling Pathway ; Part E. The Fibroblast Growth Factor Signaling Pathway ; Part F. The Gilal Cell-Derived Neurotrophic Factor Signaling Pathway ; Part G. The Endothelin Signaling Pathway ; Part H. The Notch Signaling Pathway ; Part I. The P13K-LKB1 Pathway ; Part J. The RAS Pathway ; IV GENE FAMILIES NOT YET IN PATHWAYS ; Part A. The Homeobox Gene Family ; Part B. The Paired-Box (PAX) Gene Family ; Part C. The Forkhead Gene Family ; Part D. The T-Box Gene Family ; Part E. The SOX Gene Family ; V PROCESSES ; Part A. Regulation of Chromatin Structure and Gene Expression ; Part B. Transcription Factors ; Part C. RNA Localisation and Control of Activity ; Part D. Posttranslational Control and Ubiquitination ; Part E. Cell Cycle, Proliferation, and Apoptosis ; Part F. Guanine Nucleotide-Binding Proteins ; Part G. Microtubule Motos, Cilia, and Cytoskeleton ; Part H. Vesicle-Mediated Trafficking and Endocytosis ; Part I. Extracellular Matrix ; Part J. Guidance Molecules ; Part K. Junctions, Transporters and Channels ; VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION OR UNCLASSIFIEDshow more

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