Emery and Rimoins Principles and Practice of Medical Genetics and Genomics: Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders, Seventh Edition bridges the gap between high-level molecular genetics and practical applications. With nearly 5,000 pages of detailed coverage and contributions from over 250 of the world’s most trusted authorities in medical genetics, this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies for this growing field. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading international contributors examine the genetics of ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. Revised and up-to-date volume that fully addresses medical genetics and genomics as applied to ophthalmologic, hearing, craniofacial, dermatologic, connective tissue, and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studiesProvides genetic researchers, students, and health professionals with new and updated chapters on the genetic basis of, and treatment pathways for, muscular dystrophy, motor and sensory disorders, congenital myopathies, color vision defects, glaucoma, and hereditary hearing impairment among other conditionsIncludes color images supporting identification, concept illustration, and method processingFeatures contributions by leading international researchers and practitioners of medical genetics INDICE: Section 11. Color Vision Defects2. Optic Atrophy3. Glaucoma4. Defects of the Cornea5. Congenital Cataracts and Genetic Anomalies of the Lens6. Hereditary Retinal and Choroidal Dystrophies7. Strabismus8. AnophthalmiaSection 29. Hereditary Hearing ImpairmentSection 310. Abnormalities of Pigmentation11. Ichthyosiform Dermatoses12. Epidermolysis Bullosa13. Ectodermal Dysplasias14. Epidermal Nevus and Related Syndromes15. Psoriasis16. Cutaneous Hamartoneoplastic Disorders17. Inherited Disorders of the HairSection 418. Marfan Syndrome and Related Disorders19. Ehlers-Danlos Syndrome20. Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders21. Osteogenesis Imperfecta (and Other Disorders of Bone Matrix)22. Disorders of Bone Density, Volume, and Mineralization23. Chondrodysplasias24. Abnormalities of Bone Structure25. The Dysostoses26. Arthrogryposes (Multiple Congenital Contractures)Section 527. Common Skeletal Deformities28. Hereditary Noninflammatory Arthropathies29. Pathways-Cohesinopathies30. Genes and Mechanisms in Human Ciliopathies

• ISBN: 978-0-12-812531-1
• Editorial: Academic Press
• Encuadernacion: Cartoné
• Páginas: 570
• Fecha Publicación: 02/12/2024
• Nº Volúmenes: 1
• Idioma: Inglés