1 option
Emery and Rimoin's Principles and practice of medical genetics and genomics : developmental disorders / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
- Format:
- Book
- Language:
- English
- Subjects (All):
- Developmental disabilities--Genetic aspects.
- Developmental disabilities.
- Medical genetics.
- Genomics.
- Genetics, Medical.
- Developmental Disabilities.
- Genetic disorders.
- Medical Subjects:
- Genetics, Medical.
- Genomics.
- Developmental Disabilities.
- Physical Description:
- 1 online resource (xiii, 504 pages) : illustrations.
- Edition:
- Seventh edition.
- Other Title:
- Principles and practice of medical genetics and genomics : Developmental disorders
- Place of Publication:
- London, England : Academic Press, [2025]
- Summary:
- Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics includes the latest information on 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 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. --Publisher's website (viewed July 23, 2025)
- Contents:
- Human developmental genetics
- Clefting, dental, and craniofacial syndromes
- Craniosynostosis
- Autosomal trisomies
- Sex-chromosome abnormalities
- Deletions and other structural abnormalities of the autosomes
- Hereditary hearing impairment
- Color vision defects
- Optic atrophy
- Glaucoma
- Genetic disorders of the cornea
- Inherited cataracts and other genetic disorders of the lens
- Inherited retinal and choroidal dystrophies
- Genetics of strabismus
- Anophthalmia, microphthalmia, and uveal coloboma.
- Notes:
- Includes bibliographic references
- Includes bibliographical references and index.
- Online resource; title from PDF title page (ScienceDirect, viewed November 12, 2024).
- ISBN:
- 0-12-815235-4
The Penn Libraries is committed to describing library materials using current, accurate, and responsible language. If you discover outdated or inaccurate language, please fill out this feedback form to report it and suggest alternative language.