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- W4298004018 abstract "Congenital stapedial fixation is a type of conductive hearing loss in which impairment of the sound-conduction mechanism is caused by congenital or acquired fixation of the stapes. It is genetically heterogeneous, but it has been recently reported to be also caused by mutations in the <i>Noggin (NOG)</i> gene. The authors have experienced a 6-year old boy with bilateral mixed hearing loss, who has a family history of hearing loss. No stapedial reflex was observed, and temporal bone CT showed no abnormality in the middle ear, as well as in the ossicles. Genetic study revealed novel <i>NOG</i> gene mutations, which have never been reported before as a relevant gene mutation for congenital hearing loss related with stapedial fixation. Under the possible diagnosis of congenital stapedial fixation with mixed hearing loss caused by <i>NOG</i> gene mutations, the patient has started to wear bilateral hearing aids and is being followed up for possible surgical therapy. Here, we report this case of congenital mixed hearing loss caused by novel <i>NOG</i> gene mutations with a review of the literatures." @default.
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- W4298004018 date "2022-11-21" @default.
- W4298004018 modified "2023-10-18" @default.
- W4298004018 title "A Case of a <i>Novel Noggin (NOG)</i> Gene Mutation in Congenital Hearing Loss" @default.
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- W4298004018 doi "https://doi.org/10.3342/kjorl-hns.2022.00458" @default.
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