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Article

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.

Scientific reports - 22 Apr 2023

Oishi Naoki, Noguchi Masaru, Fujioka Masato, Nara Kiyomitsu, Wasano Koichiro, Mutai Hideki, Kawakita Rie, Tamura Ryota, Karatsu Kosuke, Morimoto Yukina, Toda Masahiro, Ozawa Hiroyuki, Matsunaga Tatsuo

Abstract excerpt

NF2-related schwannomatosis (NF2) is an autosomal dominant genetic disorder caused by variants in the NF2 gene. Approximately 50% of NF2 patients inherit pathogenic variants, and the remainder acquire de novo variants. NF2 is characterized by development of bilateral vestibular schwannomas. The genetic background of Japanese NF2 cases has not been fully investigated, and the present report performed a genetic...

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Identifiers

PMID: 37087513
DOI: 10.1038/s41598-023-33812-w
PMCID: PMC10122645

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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