Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 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 and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. 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. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the molecular genetics of muscular dystrophy, motor and sensory disorders, congenital myopathies, color vision defects, glaucoma, and hereditary hearing impairment among other conditions. 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. Wholly revised and up-to-date, this volume 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 geneticsA robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field