Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Neurofibromatosis type 1 (NF1) is a multisystem disease with autosomal dominant inheritance and complete penetrance diagnosed by clinical findings. Cutaneous neurofibromas are present in almost all adult patients in the dermis, epidermis or along the peripheral nerves. Plexiform neurofibromas are su...

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Detalles Bibliográficos
Autores principales: Quintáns, B., Pardo, J., Campos, B., Barros, F., Volpini, V., Carracedo, Á., Sobrido, M.J.
Formato: Texto
Lenguaje:English
Publicado: S. Karger AG 2011
Materias:
Published: April 2011
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084038/
https://www.ncbi.nlm.nih.gov/pubmed/21532985
http://dx.doi.org/10.1159/000327557

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