Article
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.
International journal of pediatric otorhinolaryngology - 1 Apr 2006
Iliadou Vassiliki, Van Den Bogaert Kris, Eleftheriades Nikolaos, Aperis George, Vanderstraeten Kathleen, Fransen Erik, Thys Melissa, Grigoriadou Maria, Pampanos Andreas, Economides John, Iliades Theophilos, Van Camp Guy, Petersen Michael B
Abstract excerpt
OBJECTIVE: The aim of our study was to characterize the hearing impairment in a large multigenerational Greek family with autosomal dominant nonsyndromic otosclerosis and to perform genetic linkage analysis to known otosclerosis loci and collagen genes. In addition, we looked for mutations in the NOG gene to rule out congenital stapes ankylosis syndrome. METHODS: Audiological analysis of the affected persons was...
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