Inborn Errors of Development

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-sz (TGF-sz) 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 UNCLASSIFIED

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