Full 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.
Contents
1. Human Developmental Genetics
Wen-Hann Tan
2. Clefting, Dental, and Craniofacial Syndromes
Piranit Nik Kantaputra and Mary L. Marazita
3. Craniosynostosis
Amy Feldman Lewanda, Ethylin Wang Jabs and Pedro Alfonso Sanchez-Lara
4. Autosomal Trisomies
Shahad Salman, Nathaniel H. Robin, Fady M. Mikhail and Angela Seasely
5. Sex-Chromosome Abnormalities
Claus H. Gravholt
6. Deletions and Other Structural Abnormalities of the Autosomes
Laura K. Conlin, Ada J.S. Chan, Beverly S. Emanuel and Nancy B. Spinner
7. Hereditary Hearing Impairment
Arti Pandya
8. Color Vision Defects
Maureen Neitz and Jay Neitz
9. Optic Atrophy
Suzie Kim, Grace Shih and Brian P. Brooks
10. Glaucoma
Janey L. Wiggs
11. Genetic disorders of the cornea
Mohammad A. Bakr, Elmer Tu, Joel Sugar and V. Vinod Mootha
12. Inherited Cataracts and Other Genetic Disorders of the Lens
Alan Shiels and J. Fielding Hejtmancik
13. Inherited retinal and choroidal dystrophies
Suma P. Shankar
14. Genetics of Strabismus
J. Bronwyn Bateman and Sherwin J. Isenberg
15. Anophthalmia, Microphthalmia, and Uveal Coloboma
Paige M. Brooks and Brian P. Brooks
