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Zusatztext 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. Informationen zum Autor Robert P. Erickson is the Holsclaw Family Professor Emeritus of Human Genetics and Inherited Disease in the Department of Pediatrics at the University of Arizona.Anthony J. Wynshaw-Boris is Division Chief at the Pediatric Medical Genetics University of California, San Francisco Klappentext Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.Supplementary Content Available on Oxford Medicine Online Zusammenfassung This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology. Inhaltsverzeichnis I: GENERAL CONCEPTS; 1. Human Malformations and Their Genetic Basis; CHARLES J. EPSTEIN; 2. Principles of Differentiation and Morphogenesis; scott f. gilbert and ritva rice; 3. Model Organisms in the Study of Development and Disease; ethan bier and william mcginnis; 4. Human Genomics and Human Development; Bob Nussbaum; II: Patterns of Development; 5. Development of Left-Right Asymmetry; Hiroshi Hamada; 6. Neural Crest Formation and Craniofacial Development; Kurt A. Engleka and Jonathan A. Epstein; 7. Development of the Nervous System; JOHN L. R. RUBENSTEIN AND LUIS PUELLES; 8. Development of the Eye; David C. Beebe; 9. Development of the Ear; Donna M. Fekete; 10. Molecular Regulation of Cardiogenesis; Deepak Srivastava and Joseph T. C. Shieh; 11. Update on the Development of the Vascular System and Its Sporadic Disorders; M. Michael Cohen Jr; 12. MUSCLE AND SOMITE DEVELOPMENT; Douglas Anderson and Alan Rawls; 13. The Development of Bone and Cartilage; shunichi murakami, haruhiko akiyama, And benoit de crombrugghe; 14. LIMB DEVELOPMENT; MalteSpielmann and Sigmar Stricker; 15. The Sex Determination Pathway; PETER J. eLLIS and robert p. erickson; 16. Development of the Kidney; Kevin T. Bush, Mita M. Shah, Dylan L. Steer, Derina E. Sweeney, and Sanjay K. Nigam; 17. DEVELOPMENT OF THE ENDODERMAL DERIVATIVES IN LUNG, LIVER, PANCREAS, AND GUT; Ben Z. Stanger,; 18. Development of Epidermal Appendages: Teeth and Hair; ATSUSHI OHAZAMA AND PAUL T. SHARPE; III: Defined Core Developmental Pathways Linked to Cilia; Part A: Ciliary Functions: Genesis, Transport, and Reabsorbtion; 19. Primary Ciliary Dyskinesia (Kartagener's Syndrome); MICHAL WITT AND ZUZANNA BUKOWY-BIERY??O; 20. The Molecular Basis of Joubert Syndrome and Related Disorders; Jeong Ho Lee and Joseph G. Gleeson; 21. The Bardet-Biedl Syndrome; Val C. Sheffield, Qihong Zhang, Elise Heon, Arlene V. Drack, Edwin M. Stone and Rivka Carmi; 22. The Molecular basis of Oral-facial-digital type I (OFDI) SYNdrome; Brunella Franco 23. Meckel syndrome; Amanda Leightner and Peter C. Harris; 24. From Hydrolethalus to Acrocallosal syndromes: A spectrum of disorders linked to KIF7 gene.; Ferechte Encha-RAZAVI AND Tania ATTIE-BITACH; 25. Sensenbrenner syndrome (Cranioectodermal dysplasia, CED)-a genetically heterogeneous ciliopathy; Joanna Walczak-Sztulpa AND, Anna Latos-Bielenska; PART B: THE SONIC HEDGEHOG SIGNALING PATHWAY; 27. The Hedgehog Signaling Network; M. MICHAEL COHEN; 28. SMITH-LEMLI-OPITZ SYNDROME; WEN-HANN TAN AND MIRA B. IRONS; 29. SHH AND HOLOPROSENCEPHALY; KHOSR...
