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3 ly that was ascertained to have nonsyndromic otosclerosis but was subsequently found to have a congen
4 were found in seven patients in our familial otosclerosis cohort; three are missense mutations predic
6 d a large multi-generational family in which otosclerosis has been inherited in an autosomal dominant
9 apes is usually progressive and secondary to otosclerosis, it may present congenitally, with other sk
11 d that SERPINF1-012 expression is reduced in otosclerosis patients with and without SERPINF1 mutation
12 ients with sporadic or familial nonsyndromic otosclerosis should be evaluated for mild features of th
13 6 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive heari
14 our families exhibiting dominantly inherited otosclerosis to identify 23 candidate variants (reduced
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