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Article

Neurofibromatosis Type 1 with Plexiform Neurofibroma: A Novel Mutation Uncovered.

Romanian journal of ophthalmology - 1 Jan 2026

Garg Pragati, Garg Shourriya, Shukla Aparajita, Shukla Ruchi, Shrinkhal

Abstract excerpt

Objectives: The objective of this article is to present a classic case of Neurofibromatosis Type 1 (NF1), a multisystemic genetic disorder, in a 16-year-old female who demonstrated hallmark clinical features, including café-au-lait macules, Lisch nodules, and a plexiform neurofibroma. This case also highlights the diagnostic significance of next-generation sequencing (NGS), which identified a novel pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42261366
DOI: 10.22336/rjo.2026.18
PMCID: PMC13242652

Genes

NF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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