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Article

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.

European journal of human genetics : EJHG - 1 May 2002

Wimmer Katharina, Mühlbauer Manfred, Eckart Markus, Callens Tom, Rehder Helga, Birkner Thomas, Leroy Jules G, Fonatsch Christa, Messiaen Ludwine

Abstract excerpt

Spinal neurofibromas are found in up to 38% of NF1 patients. However, they cause clinical implications only in about 5% of the patients. In contrast, multiple symptomatic spinal neurofibromas are the main clinical finding in patients with familial spinal neurofibromatosis. Familial spinal neurofibromatosis has been considered to be a distinct clinical form of neurofibromatosis. Linkage analysis in two families...

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Identifiers

PMID: 12082509
DOI: 10.1038/sj.ejhg.5200807

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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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