Article
Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.
Endocrine regulations - 1 Jul 2012
Masindova I, Varga L, Stanik J, Valentinova L, Profant M, Klimes I, Gasperikova D
Abstract excerpt
Hearing loss is one of the most widespread sensory disorders. The incidence of deafness in general population is 1:1000 newborns. About one half of the cases of the congenital sensorineural hearing loss (SNHL) is inherited. Recessive mutations in the gap junction beta 2 (GJB2) gene are the most common genetic causes of the nonsyndromic SNHL. The GJB2 encodes a protein connexin 26 which forms a subunit of gap...
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