**Selected for 2026 Doody's Core Titles as an Essential Purchase 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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. Contributors - p. xi 7. Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics - p. xiii 8. Preface to Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders - p. xiv 9. Part I: Connective Tissue Disorders - p. xiv 10. 1. Marfan Syndrome - p. 3 11. 2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders - p. 53 12. Disorders of Bone Density, Volume, and Mineralization - p. 91 13. 4. Osteochondrodysplasias - p. 130 14. Part II: Dermatologic Disorders - p. 150 15. Abnormalities of Pigmentation - p. 154 16. Ichthyosiform Dermatoses - p. 224 17. 7. Epidermolysis Bullosa - p. 245 18. 8. Ectodermal Dysplasias - p. 273 19. The Genetics of Skin Cancer - p. 309 20. 10. Genetics of Psoriasis - p. 345 21. 11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dubé (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC) - p. 367 22. 12. Inherited Disorders of the Hair - p. 389 23. Part III: Endocrinologic Disorders - p. 422 24. Genetic Disorders of the Adrenal Gland - p. 425 25. Genetic Disorders of the Pituitary Gland - p. 456 26. Thyroid Disorders - p. 497 27. Diabetes Mellitus - p. 532 28. Part IV: Skeletal Disorders - p. 588 29. Common Skeletal Deformities - p. 591 30. Hereditary Noninflammatory Arthropathies - p. 603 31. Abnormalities of Bone Structure - p. 617 32. Osteogenesis Imperfecta and Other Disorders of Bone Matrix - p. 633 33. Index - p. 663
**Selected for 2026 Doody's Core Titles as an Essential Purchase 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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. Contributors - p. xi 7. Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics - p. xiii 8. Preface to Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders - p. xiv 9. Part I: Connective Tissue Disorders - p. xiv 10. 1. Marfan Syndrome - p. 3 11. 2. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders - p. 53 12. Disorders of Bone Density, Volume, and Mineralization - p. 91 13. 4. Osteochondrodysplasias - p. 130 14. Part II: Dermatologic Disorders - p. 150 15. Abnormalities of Pigmentation - p. 154 16. Ichthyosiform Dermatoses - p. 224 17. 7. Epidermolysis Bullosa - p. 245 18. 8. Ectodermal Dysplasias - p. 273 19. The Genetics of Skin Cancer - p. 309 20. 10. Genetics of Psoriasis - p. 345 21. 11. Cutaneous Hamartoses-Renal Cancer Syndromes: Birt-Hogg-Dubé (BHD) Syndrome and Hereditary Leiomyomatosis and Renal Cancer (HLRCC) - p. 367 22. 12. Inherited Disorders of the Hair - p. 389 23. Part III: Endocrinologic Disorders - p. 422 24. Genetic Disorders of the Adrenal Gland - p. 425 25. Genetic Disorders of the Pituitary Gland - p. 456 26. Thyroid Disorders - p. 497 27. Diabetes Mellitus - p. 532 28. Part IV: Skeletal Disorders - p. 588 29. Common Skeletal Deformities - p. 591 30. Hereditary Noninflammatory Arthropathies - p. 603 31. Abnormalities of Bone Structure - p. 617 32. Osteogenesis Imperfecta and Other Disorders of Bone Matrix - p. 633 33. Index - p. 663
