نتایج جستجو برای: syndromic hearing loss
تعداد نتایج: 490930 فیلتر نتایج به سال:
OBJECTIVE To describe low-frequency sensorineural hearing loss (LFSNHL) inherited as a dominant trait in 3 families and in 1 sporadic case. DESIGN Longitudinal clinical study from 1968 to 2001. SETTING Tertiary care hospital; field studies conducted by molecular genetic research laboratory. PARTICIPANTS Dominant LFSNHL families. INTERVENTIONS Questionnaires, serial audiograms, and inter...
1. Review the patterns of hearing loss in hereditary hearing impairment. AL First, we must understand that genetic hearing loss seems to breach all categories of hearing loss, including the following: congenital, progressive, and adult onset; conductive, sensory, and neural; syndromic and nonsyndromic; high-frequency, low-frequency, or mixed frequency; and mild or profound. Genetic hearing loss...
Hearing loss, which is genetically heterogeneous, can be caused by mutations in the mitochondrial DNA (mtDNA). The A1555G mutation of the 12S ribosomal RNA (rRNA) gene in the mtDNA has been associated with both aminoglycoside-induced and non-syndromic hearing loss in many ethnic populations. Here, we report for the first time the clinical and genetic characterization of nine Korean pedigrees wi...
introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...
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