Article
Otosclerosis Associated with a De Novo Mutation -832G > A in the TGFB1 Gene Promoter Causing a Decreased Expression Level.
Scientific reports - 11 Jul 2016
Priyadarshi Saurabh, Hansdah Kirtal, Ray Chinmay Sundar, Biswal Narayan Chandra, Ramchander Puppala Venkat
Abstract excerpt
Otosclerosis (OTSC) is defined by abnormal bone remodeling in the otic capsule of middle ear which leads to conductive hearing loss. In our previous study, we have identified a de novo heterozygous mutation -832G > A in the promoter of TGFB1 in an otosclerosis patient. In the present study, we progressively screened this mutation in a cohort of 254 cases and 262 controls. The family members of the patient...
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