Definitions, Protocols and Guidelines in Genetic Hearing ImpairmentISBN: 978-1-86156-188-6
Paperback
200 pages
April 2001
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Section 1 - Terminology and Definitions.
Audiological terms.
Vestibular definitions.
Epidemiological terms.
Genetic terms.
Section 2 - Protocols.
Audiometric investigation of probands.
Audiometric investigation of first degree relatives.
Audiometric investigation of carriers.
Vestibular protocol.
Epidemiological criteria.
The European congenital ear anomaly inventory.
Protocol for syndromal disorders associated with hearing impairment.
How to collaborate with a genetic lab.
Section 3 - Phenotype/Genotype Correlation.
Introduction - Genotypes and phenotypes of non-syndromal hearing impairments.
Phenotype/Genotype correlation autosomal dominant and autosomal recessive non-syndromatic hearing impairment.
X-genotypes and phenotypes of non-syndromal X-linked hearing impairment.
Phenotype/genotype correlation hearing impairment with mitochondrial DNA mutations.
Section 4 - Relevant web sites.
The hereditary hearing loss homepage.
Connexin 26 (GJB2) deafness homepage.