| Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. | |
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MedLine Citation:
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PMID: 22258529 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.European Journal of Human Genetics advance online publication, 18 January 2012; doi:10.1038/ejhg.2011.275. |
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Authors:
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D Babovic-Vuksanovic; Ludwine Messiaen; Christoph Nagel; Hilde Brems; Bernd Scheithauer; Ellen Denayer; Rong Mao; Raf Sciot; Karen M Janowski; Martin U Schuhmann; Kathleen Claes; Eline Beert; James A Garrity; Robert J Spinner; Anat Stemmer-Rachamimov; Ralitza Gavrilova; Frank Van Calenbergh; Victor Mautner; Eric Legius |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-18 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Medical Genetics, Mayo College of Medicine, Rochester, MN, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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