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

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 gene...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10122645/
https://www.ncbi.nlm.nih.gov/pubmed/37087513
http://dx.doi.org/10.1038/s41598-023-33812-w

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