Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (7 ed)
Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders

Edited by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody

ISBN13: 9780128125311

Imprint: Academic Press Inc

Publisher: Elsevier Science Publishing Co Inc

Format: Hardback

Published: 20/11/2024

Availability: POD

Description
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the seventh edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, seventh edition, bridges the gap between high-level molecular genetics and genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
PART I Connective Tissue Disorders 1. Marfan Syndrome Reed E. Pyeritz 2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders Qiaoli Li and Jouni Uitto 3. Disorders of Bone Density, Volume, and Mineralization Reed E Pyeritz 4. Chondrodysplasias Clair A. Francomano PART II Dermatologic Disorders 5. Abnormalities of Pigmentation Reed E. Pyeritz 6. Ichthyosiform Dermatoses Howard P. Baden, John J. DiGiovanna, Keith A. Choate, and Caroline M. Echeandia-Francis 7. Epidermolysis Bullosa Cristina Has, Leena Bruckner-Tuderman, and Jouni Uitto 8. Ectodermal Dysplasias Dorothy Katherine Grange 9. The Genetics of Skin Cancer Reed E. Pyeritz 10. Genetics of Psoriasis Johann E. Gudjonsson and James T. Elder 11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dub_e (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC) Katherine L. Nathanson 12. Inherited Disorders of the Hair Eunice Y. Lee, Mazen Kurban, and Angela M. Christiano PART III Endocrinologic Disorders 13. Genetic Disorders of the Adrenal Gland Reed E. Pyeritz 14. Genetic Disorders of the Pituitary Gland Reed E. Pyeritz 15. Thyroid Disorders Michel Polak and Gabor Szinnai 16. Diabetes Mellitus Reed E. Pyeritz PART IV Skeletal Disorders 17. Common Skeletal Deformities Reed E. Pyeritz 18. Hereditary Noninflammatory Arthropathies Mariko L. Ishimori 19. Abnormalities of Bone Structure Reed E. Pyeritz 20. Osteogenesis Imperfecta and Other Disorders of Bone Matrix Reed E. Pyeritz
  • Medical genetics
  • Gene therapy
  • Genetics (non-medical)
  • DNA & Genome
  • Postgraduate, Research & Scholarly
  • Professional & Vocational
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Weight:450.00
List Price: £95.00