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Article

[A case report of congenital sensorineural deafness caused by novel mutation in Usher1C and related literature analysis].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Jun 2020

Guo Min, Han Weiwei, Li Shuling

Abstract excerpt

To study the clinical features and causes of congenital Usher hearing loss in one child. Clinical examination, audiological tests, visual acuity examination were conducted in the proband and its family members, and second-generation sequencing technology for deafness gene detection was employed. The proband exhibited profound sensorineural deafness（hearing threshold>90 dB nHL）. There was no visual loss after...

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Identifiers

PMID: 32842192
DOI: 10.13201/j.issn.2096-7993.2020.06.019
PMCID: PMC10128338

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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