A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Spinal neurofibromatosis (SNF) has been considered to be an alternative form of neurofibromatosis in which spinal cord tumors are the main clinical characteristic. Familial SNF has been reported, elsewhere, in three families-two linked to markers within the gene for neurofibromatosis type 1 (NF1) an...

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Détails bibliographiques
Auteurs principaux: Ars, E, Kruyer, H, Gaona, A, Casquero, P, Rosell, J, Volpini, V, Serra, E, Lázaro, C, Estivill, X
Format: Artigo
Langue:Inglês
Publié: 1998
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377042/
https://ncbi.nlm.nih.gov/pubmed/9529361
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