Skip to main content

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

Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders

  • 7th Edition - December 2, 2024
  • Editors: Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody
  • Language: English
  • Hardback ISBN:
    9 7 8 - 0 - 1 2 - 8 1 2 5 3 1 - 1
  • eBook ISBN:
    9 7 8 - 0 - 1 2 - 8 1 2 6 7 9 - 0

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders,… Read more

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

Purchase options

Limited Offer

Save 50% on book bundles

Immediately download your ebook while waiting for your print delivery. No promo code needed.

Book bundle cover eBook and print

Institutional subscription on ScienceDirect

Request a sales quote

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.