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Article

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jul 2014

Ben-Salem Salma, Al-Shamsi Aisha M, Ali Bassam R, Al-Gazali Lihadh

Abstract excerpt

INTRODUCTION: Germline heterozygous mutations in the tumor suppresser NF1 gene cause a cancer predisposition syndrome known as neurofibromatosis type 1 (NF1). This disease is one of the most common multisystem disorders with an estimated incidence of 1 in 3,000 to 1 in 4,000 births. Clinically, NF1 patients are prone to develop "café au lait" spots, neurofibromas, Lisch nodules, freckling of the axillary, or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24413922
DOI: 10.1007/s00381-013-2352-9

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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