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Genetic Counseling of a Hearing-impaired Patient with Multiple Genetic Mutations.

Nihon Jibiinkoka Gakkai kaiho - 1 Feb 2017

Kataoka Yuko, Sugaya Akiko, Maeda Yukihide, Kariya Shin, Omichi Ryotaro, Fukushima Kunihiro, Nishizaki Kazunori

Abstract excerpt

Since April 2012, genetic testing for congenital hearing loss is covered by the public health insurance in Japan. Recent (since August 2015) developments in next-generation sequencing technology have enabled the detection of 154 mutations in 19 genes. Genetic testing provides valuable information on hearing phenotype, prognosis, and prediction of associated symptoms. We report a hearing-impaired patient in whom...

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PMID: 30035268

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GJB2

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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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