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...

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Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2012
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Article
גישה מקוונת: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
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