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Molecular diagnosis of deafness, 1st ed. 2021 Modern Otology and Neurotology Series, Vol. 2

Langue : Anglais

Auteur :

Genetic disorders are a common cause of congenital/early-onset sensorineural hearing loss. The identification of genes that are responsible for hearing loss is a breakthrough approach and has advanced our knowledge of the biology of hearing.
​.- Chapter 1: Molecular Diagnosis of Deafness: Impact of Gene Identification. ​.- Chapter 2: Genetic Epidemiology of Deafness Genes and Clinical Application:Comparison with the mutation spectrum and screening strategy. ​.- Chapter 3: Clinical Application. 3.1. Non-syndromic Hearing Loss. 3.1.1 GJB2 3.1.2 SLC26A4  3.1.2 Mitochondria 1555 3.1.3 Mitochondria 3243 3.1.4 CDH23 3.1.5 TECTA 3.1.6 KCNQ43.2. Syndromic Hearing Loss. 3.2.1 BOR Syndrome (EYA1) 3.2.2 Usher Syndrome (MYO7A, CDH23, PCDH15, USH2A, etc) 3.2.3 Pendred Syndrome (SLC26A4) 3.2.4 SYM1, SYNS1 (NOG) ​.- Chapter 4: Genetic Testing and Cochlear Implantation. ​.- Chapter 5: Genetic Counseling. ​.- Chapter 6: Future Direction.  
Shin-ichi Usami, M.D., Ph.D. Professor and Chairman Department of Otorhinolaryngology Shinshu University School of Medicine 3-1-1 Asahi, Matsumoto 390-8621 Japan Tel: +81-263-37-2666 Fax: +81-263-36-9164 E-Mail: usami@shinshu-u.ac.jp
Describes the details of each gene responsible for hearing loss and also its clinical application Provides information on genetic testing that leads to successful treatment, prevents hearing loss, and supports better genetic counseling Includes an auditory performance review after cochlear implantation    

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