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Article

[Neurofibromatosis type 2 as a result of a de novo mutation: a case report].

Revista de neurologia - 1 Jan 2000

Noguera-Julian A, Perez-Dueñas B, Pons M, Cambra-Lasaosa F J, Palomeque-Rico A, Fortuny C, García-Cazorla A, Campistol J

Abstract excerpt

INTRODUCTION: Neurofibromatosis type 2 is a dominant autosomic hereditary disease which courses with distinct tumours of the central nervous system and scant cutaneous manifestations. The increased knowledge of the natural history and the genetics of NF 2 acquired over the past few years has shown that clinical onset possibly occurs during the paediatric age and an early diagnosis of these patients can be...

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PMID: 12497309

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

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