Full Description
**Selected for 2025 Doody's Core Titles® in Clinical Genetics**
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.
Contents
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
