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Article

Clinical manifestations and genetic analysis of a family with neurofibromatosis type 2.

Acta oto-laryngologica - 1 Jan 2022

Wang Victoria Y, Liu Te-Yi, Fang Te-Yung, Chen Ya-Hui, Huang Chi-Jung, Wang Pa-Chun

Abstract excerpt

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominantly inherited disease with slow, yet potentially life-threatening progression. OBJECTIVE: We describe the clinical manifestations and genetic profile of a family with NF2. METHODS: We enrolled a 16-member family with NF2. We collected clinical examinations and imaging information. Genetic analysis was conducted through multiplex ligation-dependent...

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Identifiers

PMID: 34915804
DOI: 10.1080/00016489.2021.2012594

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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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