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, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. 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 practical application and serves as an invaluable clinical tool for 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. iv 6. List of Contributors - p. ix 7. PREFACE - p. xi 8. Preface to Developmental Disorders - p. xiii 9. Human Developmental Genetics - p. 1 10. Chapter 2. Clefting, Dental, and Craniofacial Syndromes - p. 69 11. Chapter 3. Craniosynostosis - p. 81 12. Autosomal Trisomies - p. 105 13. Chapter 5. Sex-Chromosome Abnormalities - p. 139 14. Chapter 6. Deletions and Other Structural Abnormalities of the Autosomes - p. 179 15. Chapter 7. Hereditary Hearing Impairment - p. 227 16. Chapter 8. Color Vision Defects - p. 281 17. Optic Atrophy - p. 303 18. Chapter 10. Glaucoma - p. 331 19. Chapter 11. Genetic disorders of the cornea - p. 345 20. CHAPTER 12. Inherited Cataracts and Other Genetic Disorders of the Lens - p. 385 21. Inherited retinal and choroidal dystrophies - p. 413 22. Genetics of Strabismus - p. 441 23. Chapter 15. Anophthalmia, Microphthalmia, and Uveal Coloboma - p. 471 24. Index - p. 505
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, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. 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 practical application and serves as an invaluable clinical tool for 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. iv 6. List of Contributors - p. ix 7. PREFACE - p. xi 8. Preface to Developmental Disorders - p. xiii 9. Human Developmental Genetics - p. 1 10. Chapter 2. Clefting, Dental, and Craniofacial Syndromes - p. 69 11. Chapter 3. Craniosynostosis - p. 81 12. Autosomal Trisomies - p. 105 13. Chapter 5. Sex-Chromosome Abnormalities - p. 139 14. Chapter 6. Deletions and Other Structural Abnormalities of the Autosomes - p. 179 15. Chapter 7. Hereditary Hearing Impairment - p. 227 16. Chapter 8. Color Vision Defects - p. 281 17. Optic Atrophy - p. 303 18. Chapter 10. Glaucoma - p. 331 19. Chapter 11. Genetic disorders of the cornea - p. 345 20. CHAPTER 12. Inherited Cataracts and Other Genetic Disorders of the Lens - p. 385 21. Inherited retinal and choroidal dystrophies - p. 413 22. Genetics of Strabismus - p. 441 23. Chapter 15. Anophthalmia, Microphthalmia, and Uveal Coloboma - p. 471 24. Index - p. 505
