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

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 studies
• Provides 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 conditions
• Includes color images supporting identification, concept illustration, and method processing
• Features contributions by leading international researchers and practitioners of medical genetics