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.
Table of Contents
Section 11. Color Vision Defects
2. Optic Atrophy
3. Glaucoma
4. Defects of the Cornea
5. Congenital Cataracts and Genetic Anomalies of the Lens
6. Hereditary Retinal and Choroidal Dystrophies
7. Strabismus
8. Anophthalmia
Section 2
9. Hereditary Hearing Impairment
Section 3
10. Abnormalities of Pigmentation
11. Ichthyosiform Dermatoses
12. Epidermolysis Bullosa
13. Ectodermal Dysplasias
14. Epidermal Nevus and Related Syndromes
15. Psoriasis
16. Cutaneous Hamartoneoplastic Disorders
17. Inherited Disorders of the Hair
Section 4
18. Marfan Syndrome and Related Disorders
19. Ehlers-Danlos Syndrome
20. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders
21. Osteogenesis Imperfecta (and Other Disorders of Bone Matrix)
22. Disorders of Bone Density, Volume, and Mineralization
23. Chondrodysplasias
24. Abnormalities of Bone Structure
25. The Dysostoses
26. Arthrogryposes (Multiple Congenital Contractures)
Section 5
27. Common Skeletal Deformities
28. Hereditary Noninflammatory Arthropathies
29. Pathways-Cohesinopathies
30. Genes and Mechanisms in Human Ciliopathies