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Hereditary hearing loss and its syndromes

Author: Helga V Toriello; William Reardon; Robert J Gorlin
Publisher: Oxford ; New York : Oxford University Press, 2004.
Series: Oxford monographs on medical genetics, no. 50.
Edition/Format:   Print book : English : 2nd edView all editions and formats
Summary:
Genetic deafness affects 1 in 1000 children, and over the last decade several dozen of the responsible genes have been identified. This unique textbook aims to assist clinicians dealing with deaf patients and families by critically reviewing all relevant published material on genetics, pathology, clinical presentation, diagnosis, and laboratory findings. Thoroughly revised, the Second Edition has been updated  Read more...
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Additional Physical Format: Online version:
Hereditary hearing loss and its syndromes.
Oxford ; New York : Oxford University Press, 2004
(OCoLC)606110973
Material Type: Internet resource
Document Type: Book, Internet Resource
All Authors / Contributors: Helga V Toriello; William Reardon; Robert J Gorlin
ISBN: 019513849X 9780195138498
OCLC Number: 52301666
Notes: Revised edition of: Hereditary hearing loss and its syndromes / Robert J. Gorlin, Helga V. Toriello, M. Michael Cohen Jr. 1995.
Description: xix, 502 pages : illustrations ; 28 cm.
Contents: 1. Genetic Hearing Loss --
A Brief History / Robert J. Gorlin --
2. Syndrome Diagnosis and Investigation in the Hearing-impaired Patient / William Reardon --
3. Epidemiology, Etiology, Genetic Patterns, and Genetic Counseling / William Reardon, Helga V. Toriello and Catherine A. Downs --
4. Embryology of the Ear / Kathleen K. Sulik and Douglas A. Cotanche --
5. Genetic Hearing Loss with No Associated Abnormalities / Shelley D. Smith and R. Thomas Taggart --
6. Genetic Hearing Loss Associated with External Ear Abnormalities / Judith Allanson --
7. Genetic Hearing Loss Associated with Eye Disorders / William J. Kimberling --
8. Genetic Hearing Loss Associated with Musculoskeletal Disorders / Robert J. Gorlin --
9. Genetic Hearing Loss Associated with Renal Disorders / Maria Bitner-Glindzicz, Karen E. Heath and Angel Campos-Barros --
10. Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders / Helga V. Toriello --
11. Genetic Hearing Loss Associated with Cardiac Defects / Angela E. Lin and Holly H. Ardinger --
12. Genetic Hearing Loss Associated with Endocrine Disorders / William Reardon --
13. Genetic Hearing Loss Associated with Metabolic Disorders / Michael L. Netzloff, Sarah H. Eisea and Rachel A. Fisher --
14. Genetic Hearing Loss Associated with Integumentary Disorders / Helga V. Toriello --
15. Genetic Hearing Loss Associated with Oral and Dental Disorders / Robert J. Gorlin --
16. Genetic Hearing Loss Associated with Chromosome Disorders / Anne B. S. Giersch and Cynthia Morton.
Series Title: Oxford monographs on medical genetics, no. 50.
Responsibility: edited by Helga V. Toriello, William Reardon, Robert J. Gorlin.
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Abstract:

Aims to assist clinicians dealing with deaf patients and families by critically reviewing the relevant published material on genetics, pathology, clinical presentation, diagnosis and laboratory  Read more...

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From reviews of the first edition: "The target audience of this high quality book is very large. Both novice and experienced clinicians, medical geneticists, researchers and teachers will find an Read more...

 
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