Genetics for ENT Specialists: The Molecular Genetic Basis of ENT Disorders

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A new volume in the Genetics Series – convenient reference guides designed to help clinicians apply the wealth of new genetic information to their clinical practice. The series is edited by medical geneticist Eli Hatchwell of Cold Spring Harbor Laboratory, New York, and each book is authored by respected authorities in the field.

The most prevalent ENT disorders are those that affect hearing – approximately 1 in 1,000 children is born with a severe hearing impairment, and in at least half of these cases the cause is inherited. In recent years, considerable progress has been made in the field of molecular genetic studies on hereditary sensorineural hearing impairment, and it has recently become possible to make genetic diagnoses based on molecular tests in an increasing number of otologic disorders.

This book provides practitioners with a concise overview of advances in this important field of medicine and will facilitate improved management of patients with ENT disorders. For otorhinolaryngologists, medical geneticists, genetics counselors, and pediatricians.

Author(s): Dirk Kunst, Hannie Kremer, Cor Cremers
Edition: 1
Publisher: Remedica Publishing
Year: 2004

Language: English
Pages: 270

Contents......Page 12
1. Inherited Diseases in Otology......Page 16
2. Inherited Syndromic Hearing Impairment......Page 70
3. Oxidative Phosphorylation (OXPHOS) Deficiencies......Page 142
4. Inherited Diseases in Rhinology......Page 160
5. Inherited Diseases: Miscellaneous......Page 168
6. Abbreviations......Page 192
7. Glossary......Page 196
8. Index......Page 246