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Article

Segmental spinal neurofibromatosis 1: a novel phenotype.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2022

Fatima Nida, La Dine Anna, Barnard Zachary R, Lekovic Gregory P

Abstract excerpt

INTRODUCTION: Segmental neurofibromatosis (SNF) is a rare subtype of neurofibromatosis (NF). The disease is characterized by features circumscribed to one or more body cutaneous and/or subcutaneous segments. This is a classic example of somatic mosaicism which occurs by postzygotic mut ation of the NF1 gene late in the course of embryonic development affecting localized neural crest lines in the fetus. Spinal...

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Identifiers

PMID: 35595873
DOI: 10.1007/s10072-022-06139-z

Genes

NF1

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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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