Ontology highlight
ABSTRACT:
SUBMITTER: Nakanishi H
PROVIDER: S-EPMC5807171 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Nakanishi Hiroshi H Kawashima Yoshiyuki Y Kurima Kiyoto K Muskett Julie A JA Kim H Jeffrey HJ Brewer Carmen C CC Griffith Andrew J AJ
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 20180301 3
<h4>Objective</h4>To characterize the audiometric phenotype of autosomal-dominant DFNA34 hearing loss (HL) caused by a missense substitution in the NLRP3 gene. NLRP3 encodes a critical component of the NLRP3 inflammasome that is activated in innate immune responses.<h4>Study design</h4>This study was conducted under protocol 01-DC-0229 approved by the NIH Combined Neurosciences IRB. We performed medical and developmental history interviews and physical and audiological examinations of affected i ...[more]