Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofi...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Babovic-Vuksanovic, D, Messiaen, Ludwine, Nagel, Christoph, Brems, Hilde, Scheithauer, Bernd, Denayer, Ellen, Mao, Rong, Sciot, Raf, Janowski, Karen M, Schuhmann, Martin U, Claes, Kathleen, Beert, Eline, Garrity, James A, Spinner, Robert J, Stemmer-Rachamimov, Anat, Gavrilova, Ralitza, Van Calenbergh, Frank, Mautner, Victor, Legius, Eric
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355267/
https://ncbi.nlm.nih.gov/pubmed/22258529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.275
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars