Description
**Selected for 2025 Doody's Core Titles® with "Essential Purchase" designation 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, 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.- Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics- Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision- Includes color images supporting identification, concept illustration, and method processing- Features contributions by leading international researchers and practitioners of medical genetics
Table of Contents
1. Human Developmental GeneticsWen-Hann Tan2. Clefting, Dental, and Craniofacial SyndromesPiranit Nik Kantaputra and Mary L. Marazita3. CraniosynostosisAmy Feldman Lewanda, Ethylin Wang Jabs and Pedro Alfonso Sanchez-Lara4. Autosomal TrisomiesShahad Salman, Nathaniel H. Robin, Fady M. Mikhail and Angela Seasely5. Sex-Chromosome AbnormalitiesClaus H. Gravholt6. Deletions and Other Structural Abnormalities of the AutosomesLaura K. Conlin, Ada J.S. Chan, Beverly S. Emanuel and Nancy B. Spinner7. Hereditary Hearing ImpairmentArti Pandya8. Color Vision DefectsMaureen Neitz and Jay Neitz9. Optic AtrophySuzie Kim, Grace Shih and Brian P. Brooks10. GlaucomaJaney L. Wiggs11. Genetic disorders of the corneaMohammad A. Bakr, Elmer Tu, Joel Sugar and V. Vinod Mootha12. Inherited Cataracts and Other Genetic Disorders of the LensAlan Shiels and J. Fielding Hejtmancik13. Inherited retinal and choroidal dystrophiesSuma P. Shankar14. Genetics of StrabismusJ. Bronwyn Bateman and Sherwin J. Isenberg15. Anophthalmia, Microphthalmia, and Uveal ColobomaPaige M. Brooks and Brian P. Brooks
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