نتایج جستجو برای: syndromic sporadic hearing loss
تعداد نتایج: 510174 فیلتر نتایج به سال:
Mutations in the human gap junction beta-2 gene (GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11. Functional and genetic data regarding the disease causing potential of one particular GJB2 sequence variant, 101 T-->C (M34T), have proven contradictory. In this study, we found the prevalence of the M34T allele i...
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OBJECTIVE The aim of this study was to determine the syndromic etiology of bilateral severe sensorineural hearing disorders in children and current etiological causes to reduce the cases in the unknown group. METHODS This study was conducted on 550 students of five schools for the deaf in Istanbul and Zonguldak, Turkey. Otologic, audiologic, dysmorphologic, ophthalmologic and dental examinati...
Mitochondrion harbors its own DNA, known as mtDNA, encoding certain essential components of the mitochondrial respiratory chain and protein synthesis apparatus. mtDNA mutations have an impact on cellular ATP production and many of them are undoubtedly a factor that contributes to sensorineural deafness, including both syndromic and non-syndromic forms. Hot spot regions for deafness mutations ar...
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of the condition. Though much progress has been made to identify the developmental basis of tooth formation, knowledge of the etiological basis of i...
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